2157delG: a frequent mutation in BRCA2 missed by PTT.
artículo científico publicado en 2000
A Cost-effectiveness Analysis of Multigene Testing for All Patients With Breast Cancer
artículo científico publicado en 2019
A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer
scientific article published on 01 August 2018
A Micro-Costing Study of Screening for Lynch Syndrome-Associated Pathogenic Variants in an Unselected Endometrial Cancer Population: Cheap as NGS Chips?
artículo científico publicado en 2019
A Novel PTCH1 Frameshift Mutation Leading to Nevoid Basal Cell Carcinoma Syndrome.
artículo científico publicado en 2018
A case of multiple cutaneous schwannomas; schwannomatosis or neurofibromatosis type 2?
artículo científico publicado en 2006
A clinical and genetic analysis of multiple primary cancer referrals to genetics services
artículo científico publicado en 2014
A clinical study of type 1 neurofibromatosis in north west England
artículo científico publicado en 1999
A clinical study of type 2 neurofibromatosis
artículo científico publicado el 1 de agosto de 1992
A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis.
artículo científico publicado en 1993
A clinical, genetic and audiological study of patients and families with unilateral vestibular schwannomas. I. Clinical features of neurofibromatosis in patients with unilateral vestibular schwannomas
artículo científico publicado en 1996
A combined study based on experiment and molecular dynamics: perylene tetracarboxylate intercalated in a layered double hydroxide matrix.
artículo científico publicado en 2009
A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer
artículo científico publicado en 1999
A comparative study of quantitative immunohistochemistry and quantum dot immunohistochemistry for mutation carrier identification in Lynch syndrome.
artículo científico publicado en 2010
A comparison of five methods of measuring mammographic density: a case-control study
artículo científico publicado en 2018
A disease-associated germline deletion maps the type 2 neurofibromatosis (NF2) gene between the Ewing sarcoma region and the leukaemia inhibitory factor locus
article
A follow-up study of breast and other cancers in families of an unselected series of breast cancer patients
artículo científico publicado en 2002
A frequent hMSH2 mutation in hereditary non-polyposis colon cancer syndrome
artículo científico publicado en 1995
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity
artículo científico publicado en 1992
A genetic study of type 2 neurofibromatosis in the United Kingdom. II. Guidelines for genetic counselling
artículo científico publicado en 1992
A genome wide linkage search for breast cancer susceptibility genes
artículo científico publicado en 2006
A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3
article
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.
artículo científico publicado en 2016
A linkage study in seven breast cancer families
artículo científico publicado en 1993
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population
artículo científico publicado en 2010
A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations.
artículo científico publicado en 2011
A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals
artículo científico publicado en 1994
A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
artículo científico publicado en 2020
A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO
artículo científico publicado en 2004
A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers
artículo científico publicado en 2012
A novel HER2-positive breast cancer phenotype arising from germline TP53 mutations.
artículo científico publicado en 2010
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier
artículo científico publicado en 1998
A novel and fully automated mammographic texture analysis for risk prediction: results from two case-control studies
artículo científico publicado en 2017
A novel deletion within exon 6 of TP53 in a family with Li-Fraumeni-like syndrome, and LOH in a benign lesion from a mutation carrier
artículo científico publicado en 1996
A pilot study of compositional analysis of the breast and estimation of breast mammographic density using three-dimensional T1-weighted magnetic resonance imaging
artículo científico publicado en 2008
A pooled analysis of the outcome of prospective colonoscopic surveillance for familial colorectal cancer
artículo científico publicado en 2013
A previously undescribed mutation within the tetramerisation domain of TP53 in a family with Li-Fraumeni syndrome.
artículo científico publicado en 1996
A protocol for preventative mastectomy in women with an increased lifetime risk of breast cancer
artículo científico publicado en 2000
A randomised trial of screening with digital breast tomosynthesis plus conventional digital 2D mammography versus 2D mammography alone in younger higher risk women
artículo científico
A randomized placebo-controlled prevention trial of aspirin and/or resistant starch in young people with familial adenomatous polyposis
artículo científico publicado en 2011
A survey of the current clinical facilities for the management of familial cancer in Europe. European Union BIOMED II Demonstration Project: Familial Breast Cancer: audit of a new development in medical practice in European centres
artículo científico publicado en 2000
A system for enabling blind people to identify landmarks: the sound buoy
artículo científico publicado en 1997
APC mutations in familial adenomatous polyposis families in the Northwest of England.
artículo científico publicado en 1997
ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles
artículo científico publicado en 2006
Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development
artículo científico publicado en 2003
Accurate prediction of BRCA1 and BRCA2 heterozygous genotype using expression profiling after induced DNA damage
artículo científico publicado en 2006
Acute chemotherapy-related toxicity is not increased in BRCA1 and BRCA2 mutation carriers treated for breast cancer in the United Kingdom
artículo científico publicado en 2006
Addition of pathology and biomarker information significantly improves the performance of the Manchester scoring system for BRCA1 and BRCA2 testing
article
Adult weight gain and central obesity in women with and without a family history of breast cancer: a case control study
artículo científico publicado en 2007
Age related shift in the mutation spectra of germline and somatic NF2 mutations: hypothetical role of DNA repair mechanisms
artículo científico publicado en 2005
Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Results from The BRCA1 and BRCA2 Cohort Consortium
scientific article published on 02 December 2019
Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome
artículo científico publicado el 1 de octubre de 1992
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
artículo científico publicado en 2006
An alternative approach to establishing unbiased colorectal cancer risk estimation in Lynch syndrome
scientific article published on 17 June 2019
An evaluation of common breast cancer gene mutations in a population of Ashkenazi Jews
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artículo científico publicado el 1 de enero de 1998
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
artículo científico publicado en 1995
An improved coverage and spatial resolution--using dual injection dynamic contrast-enhanced (ICE-DICE) MRI: a novel dynamic contrast-enhanced technique for cerebral tumors
artículo científico publicado en 2012
An investigation into formatting and layout errors produced by blind word-processor users and an evaluation of prototype error prevention and correction techniques
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artículo científico publicado el 1 de septiembre de 2003
An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
artículo científico publicado en 2015
An unusual case of carotid body tumour
artículo científico publicado en 1998
An update on age related mosaic and offspring risk in neurofibromatosis 2 (NF2)
artículo científico publicado en 2009
An update on the diagnosis and treatment of vestibular schwannoma.
artículo científico publicado en 2017
Analysis of genetic and phenotypic heterogeneity in juvenile polyposis
artículo científico publicado en 2000
Apo E genotypes in multiple sclerosis, Parkinson's disease, schwannomas and late-onset Alzheimer's disease
artículo científico publicado en 1994
Appearances can be deceptive: an APC 1893del4 mutation with unusual properities. Mutations in brief no. 171. Online
scientific article published on 01 January 1998
Are BRCA1- and BRCA2-related breast cancers associated with increased mortality?
artículo científico publicado en 2004
Are We Ready for Online Tools in Decision Making for BRCA1/2 Mutation Carriers?
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artículo científico publicado el 9 de enero de 2012
Are we ready for targeted early breast cancer detection strategies in women with NF1 aged 30-49 years?
scientific article published on 14 September 2012
Are we ready for the challenge of implementing risk-based breast cancer screening and primary prevention?
artículo científico publicado en 2018
Are women with pathogenic variants in PMS2 and MSH6 really at high lifetime risk of breast cancer?
artículo científico publicado en 2018
Assessing individual breast cancer risk within the U.K. National Health Service Breast Screening Program: a new paradigm for cancer prevention
artículo científico publicado en 2012
Assessing the usefulness of a novel MRI-based breast density estimation algorithm in a cohort of women at high genetic risk of breast cancer: the UK MARIBS study
artículo científico publicado en 2009
Assessing women at high risk of breast cancer: a review of risk assessment models
scientific article published on 28 April 2010
Assessment of mismatch repair deficiency in ovarian cancer
scientific article published on 11 September 2020
Assessment of relative risk of second primary tumors after ovarian cancer and of the usefulness of double primary cases as a source of material for genetic studies with a cancer registry
artículo científico publicado en 1993
Association Between Invasive Lobular Breast Cancer and Mutations in the Mismatch Repair Gene MSH6
article
Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer
artículo científico publicado en 2012
Association between genetic polymorphisms and endometrial cancer risk: a systematic review
scientific article published on 17 February 2020
Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults
artículo científico publicado en 2017
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
artículo científico publicado en 2019
Association of Mismatch Repair Mutation With Age at Cancer Onset in Lynch Syndrome: Implications for Stratified Surveillance Strategies
artículo científico publicado en 2017
Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study
artículo científico publicado en 2012
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
artículo científico publicado en 2016
Association of germline genetic variants with breast cancer-specific survival in patient subgroups defined by clinic-pathological variables related to tumor biology and type of systemic treatment
artículo científico publicado en 2021
Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality
artículo científico publicado en 2010
Association of superficial plexiform and paraspinal neurofibromas in neurofibromatosis 1 (NF1)
artículo científico publicado en 1999
Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2010
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
artículo científico publicado en 2015
Associations of clinical features in neurofibromatosis 1 (NF1).
artículo científico publicado en 2000
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2014
Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis
article by Xiang Shu et al published 1 October 2018 in International Journal of Epidemiology
Attitudes to contralateral risk reducing mastectomy among breast and plastic surgeons in England
artículo científico publicado en 2016
Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis
artículo científico publicado en 2011
Auditory Brainstem Implantation in Neurofibromatosis Type 2: Experience From the Manchester Programme
artículo científico publicado en 2016
Autism and other psychiatric comorbidity in neurofibromatosis type 1: evidence from a population-based study
artículo científico publicado en 2012
Autism spectrum disorder profile in neurofibromatosis type I.
artículo científico publicado en 2015
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH
artículo científico publicado en 2003
BCRT response to Moller
artículo científico publicado en 2014
BRCA and lynch syndrome-associated ovarian cancers behave differently
artículo científico publicado en 2017
BRCA carriers, prophylactic salpingo-oophorectomy and menopause: clinical management considerations and recommendations
artículo científico
BRCA1, BRCA2 and CHEK2 c.1100 delC mutations in patients with double primaries of the breasts and/or ovaries
artículo científico publicado en 2010
BRCA1/2 mutation analysis in male breast cancer families from North West England
artículo científico publicado en 2007
BRCA1/2 predictive testing: a study of uptake in two centres
BRCA2: a cause of Li-Fraumeni-like syndrome
artículo científico publicado en 2008
Back to the future: proceedings from the 2010 NF Conference.
artículo científico publicado en 2010
Basal cell carcinomas in gorlin syndrome: a review of 202 patients
artículo científico publicado en 2010
Baseline Surveillance in Li-Fraumeni Syndrome Using Whole-Body Magnetic Resonance Imaging: A Meta-analysis
artículo científico publicado en 2017
Baseline results from the UK SIGNIFY study: a whole-body MRI screening study in TP53 mutation carriers and matched controls
artículo científico publicado en 2017
Bayesian evaluation of breast cancer screening using data from two studies
artículo científico publicado en 2003
Beliefs About Medication and Uptake of Preventive Therapy in Women at Increased Risk of Breast Cancer: Results From a Multicenter Prospective Study
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artículo científico publicado en 2018
Beliefs about weight and breast cancer: an interview study with high risk women following a 12 month weight loss intervention
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artículo científico publicado en 2015
Better life expectancy in women with BRCA2 compared with BRCA1 mutations is attributable to lower frequency and later onset of ovarian cancer
artículo científico publicado en 2008
Bevacizumab in neurofibromatosis type 2 (NF2) related vestibular schwannomas: a nationally coordinated approach to delivery and prospective evaluation
artículo científico publicado en 2016
Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
artículo científico publicado en 2016
Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group
artículo científico publicado en 2004
Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2007
Bilateral vestibular schwannomas in older patients: NF2 or chance?
artículo científico publicado en 2015
Birth incidence and prevalence of tumor-prone syndromes: Estimates from a UK family genetic register service
article
Body mass index and breast cancer survival: a Mendelian randomization analysis
artículo científico publicado en 2017
Brain tumours and the occurrence of severe invasive basal cell carcinoma in first degree relatives with Gorlin syndrome
artículo científico publicado en 1991
Breast Cancer Risk for Noncarriers of Family-SpecificBRCA1andBRCA2Mutations: More Trouble With Phenocopies
artículo científico publicado en 2012
Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores
artículo científico publicado en 2022
Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers
artículo científico publicado en 2012
Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study
scientific article published on 09 September 2019
Breast cancer in patients with germline TP53 pathogenic variants have typical tumour characteristics: the Cohort study of TP53 carrier early onset breast cancer (COPE study)
artículo científico publicado en 2019
Breast cancer pathology and stage are better predicted by risk stratification models that include mammographic density and common genetic variants
artículo científico publicado en 2019
Breast cancer prevention: SERMs come of age
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artículo científico publicado el 30 de abril de 2013
Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
artículo científico publicado en 2012
Breast cancer risk assessment in 8,824 women attending a family history evaluation and screening programme
artículo científico publicado en 2014
Breast cancer risk feedback to women in the UK NHS breast screening population.
artículo científico publicado en 2016
Breast cancer risk in a screening cohort of Asian and white British/Irish women from Manchester UK.
artículo científico publicado en 2018
Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation
article
Breast cancer risk in young women in the national breast screening programme: implications for applying NICE guidelines for additional screening and chemoprevention
artículo científico publicado en 2014
Breast cancer risk status influences uptake, retention and efficacy of a weight loss programme amongst breast cancer screening attendees: two randomised controlled feasibility trials
artículo científico publicado en 2019
Breast cancer risk-assessment models
artículo científico publicado en 2007
Breast cancer susceptibility variants alter risk in familial ovarian cancer
artículo científico publicado en 2010
Breast cancer susceptibility variants alter risks in familial disease.
artículo científico publicado en 2009
Breast density measurement for personalised screening.
artículo científico publicado en 2012
British Society of Breast Radiology Annual Scientific Meeting 2016: Manchester, UK. 6-8 November 2016.
artículo científico publicado en 2016
C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics
artículo científico publicado en 2019
CNVs affecting cancer predisposing genes (CPGs) detected as incidental findings in routine germline diagnostic chromosomal microarray (CMA) testing
artículo científico publicado en 2017
CTF meeting 2012: Translation of the basic understanding of the biology and genetics of NF1, NF2, and schwannomatosis toward the development of effective therapies.
artículo científico publicado en 2014
CYP2D6 genotype affects outcome in postmenopausal breast cancer patients treated with tamoxifen monotherapy.
artículo científico publicado en 2010
Can diet and lifestyle prevent breast cancer: what is the evidence?
artículo científico publicado en 2015
Can hair be used to screen for breast cancer?
artículo científico publicado en 2000
Can manipulation of splicing offer gene therapy possibilities to those with tumour-prone disorders?
artículo científico publicado en 2012
Can multiple SNP testing in BRCA2 and BRCA1 female carriers be used to improve risk prediction models in conjunction with clinical assessment?
artículo científico publicado en 2014
Can the breast screening appointment be used to provide risk assessment and prevention advice?
artículo científico publicado en 2015
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis
artículo científico publicado en 2013
Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families
artículo científico publicado en 2019
Cancer Screening Recommendations and Clinical Management of Inherited Gastrointestinal Cancer Syndromes in Childhood
artículo científico publicado en 2017
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome
artículo científico publicado en 2017
Cancer Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome
artículo científico publicado en 2017
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network
artículo científico publicado en 2020
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 1.
artículo científico publicado en 2017
Cancer and Central Nervous System Tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders
artículo científico publicado en 2017
Cancer genetics clinics
article
Cancer genetics service provision: a comparison of seven European centres
artículo científico publicado en 2003
Cancer genetics services in Europe
artículo científico publicado en 1999
Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
artículo científico publicado en 2015
Cancer occurrence during follow-up of the CAPP2 study -aspirin use for up to four years significantly reduces Lynch syndrome cancers for up to several years after completion of therapy.
artículo científico publicado en 2010
Cancer phenotype correlates with constitutional TP53 genotype in families with the Li-Fraumeni syndrome
artículo científico publicado en 1998
Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study: a double-blind, randomised, placebo-controlled trial
artículo científico publicado en 2020
Cancer risk and genotype-phenotype correlations in PTEN hamartoma tumor syndrome
artículo científico publicado en 2014
Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
artículo científico publicado en 2017
Cancer risk communication, predictive testing and management in France, Germany, the Netherlands and the UK: general practitioners' and breast surgeons' current practice and preferred practice responsibilities
artículo científico publicado en 2013
Cancer risk in Lynch Syndrome
artículo científico
Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
scientific article published on 24 July 2019
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.
artículo científico publicado en 2013
Cancer surveillance, obesity, and potential bias
artículo científico publicado en 2019
Cancers in BRCA1 and BRCA2 carriers and in women at high risk for breast cancer: MR imaging and mammographic features
artículo científico publicado en 2009
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2014
Cerebrovascular atherosclerosis in type III hyperlipidemia is modulated by variation in the Apolipoprotein A5 gene
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artículo científico publicado el 24 de febrero de 2011
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals
artículo científico publicado en 2020
Characterising the loss-of-function impact of 5' untranslated region variants in whole genome sequence data from 15,708 individuals
Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.
artículo científico publicado en 2016
Childhood predictive genetic testing for Li-Fraumeni syndrome
artículo científico publicado en 2009
Clinical and molecular correlates of somatic mosaicism in neurofibromatosis 2.
artículo científico publicado en 2000
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients
artículo científico publicado en 2015
Clinical follow-up after bilateral risk reducing ('prophylactic') mastectomy: mental health and body image outcomes.
artículo científico publicado en 2000
Clinical presentation, immunohistochemistry and electron microscopy indicate neurofibromatosis type 2-associated gliomas to be spinal ependymomas.
artículo científico publicado en 2012
Clinical response to bevacizumab in schwannomatosis
artículo científico publicado en 2014
Cognition in children with neurofibromatosis type 1: data from a population-based study
Colonoscopy screening compliance and outcomes in patients with Lynch syndrome
artículo científico publicado en 2015
Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations
artículo científico publicado en 2008
Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report
artículo científico publicado en 2017
Combined associations of a polygenic risk score and classical risk factors with breast cancer risk
artículo científico publicado en 2020
Comment on the article “Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri” by van den Munckhof et al
scientific article published on 28 December 2011
Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2011
Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction
artículo científico publicado en 2010
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
artículo científico publicado en 2011
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2008
Common genetic variants and modification of penetrance of BRCA2-associated breast cancer
artículo científico publicado en 2010
Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers
artículo científico publicado en 2011
Common germline polymorphisms associated with breast cancer-specific survival
artículo científico publicado en 2015
Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
artículo científico publicado en 2012
Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2012
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
scientific article published on 05 August 2009
Common variants in breast cancer risk loci predispose to distinct tumor subtypes
artículo científico publicado en 2022
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome
artículo científico publicado en 2014
Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
artículo científico publicado en 2011
Comparison of MRI and digital breast tomosynthesis in the preoperative evaluation of multifocal breast cancer
artículo científico publicado en 2015
Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives
artículo científico publicado en 2009
Comprehensive CYP2D6 genotype and adherence affect outcome in breast cancer patients treated with tamoxifen monotherapy
artículo científico
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only
artículo científico publicado en 2016
Concern regarding classification of germline TP53 variants as likely pathogenic
scientific article published on 24 April 2019
Confirmation that somatic mutations of beta-2 microglobulin correlate with a lack of recurrence in a subset of stage II mismatch repair deficient colorectal cancers from the QUASAR trial
artículo científico publicado en 2019
Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma
artículo científico publicado en 1993
Congress report of the Sixth International Meeting on Psychosocial Aspects of Hereditary Breast/Ovarian Cancer Genetic Testing
artículo científico publicado en 2000
Congress report of the seventh international meeting on psychosocial aspects of genetic testing for hereditary breast and/or ovarian cancer (HBOC) and hereditary non-polyposis colorectal cancer (HNPCC).
artículo científico publicado en 2002
Consensus recommendations for current treatments and accelerating clinical trials for patients with neurofibromatosis type 2
article
Consensus recommendations to accelerate clinical trials for neurofibromatosis type 2.
artículo científico publicado en 2009
Constitutional de novo deletion CNV encompassing REST predisposes to diffuse hyperplastic perilobar nephroblastomatosis (HPLN)
scientific article published on 11 September 2020
Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2.
artículo científico publicado en 2004
Contralateral breast cancer risk in BRCA1/2-positive families needs to be adjusted for phenocopy rates particularly in second-degree untested relatives
artículo científico publicado en 2013
Contralateral mastectomy improves survival in women with BRCA1/2-associated breast cancer
artículo científico publicado en 2013
Contralateral risk-reducing mastectomy: review of risk factors and risk-reducing strategies
artículo científico publicado en 2015
Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer
Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment
artículo científico publicado en 2023
Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study
artículo científico publicado en 2020
Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database
artículo científico publicado en 2020
Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
scholarly article by Mia M Gaudet published in November 2010
Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.
artículo científico publicado en 2010
Correspondence re: A. Rothfuss et al., Induced micronucleus frequencies in peripheral blood lymphocytes as a screening test for carriers of a BRCA1 mutation in breast cancer families. Cancer Res., 60: 390-394, 2000
artículo científico publicado en 2001
Cost analysis of biomarker testing for mismatch repair deficiency in node-positive colorectal cancer
artículo científico publicado en 2008
Cost effectiveness of population based BRCA1 founder mutation testing in Sephardi Jewish women
artículo científico publicado en 2017
Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting
scientific article published on 30 August 2019
Cost-effectiveness of population based BRCA testing with varying Ashkenazi Jewish ancestry
artículo científico publicado en 2017
Cost-effectiveness of screening with contrast enhanced magnetic resonance imaging vs X-ray mammography of women at a high familial risk of breast cancer
artículo científico publicado en 2006
Cranial irradiation in childhood mimicking neurofibromatosis type II.
artículo científico publicado en 2017
Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset
artículo científico publicado en 2011
Creation of an international registry to support discovery in schwannomatosis.
artículo científico publicado en 2016
Critical research gaps and translational priorities for the successful prevention and treatment of breast cancer
artículo científico publicado en 2013
Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations
artículo científico publicado en 2009
Current policies for surveillance and management in women at risk of breast and ovarian cancer: a survey among 16 European family cancer clinics. European Familial Breast Cancer Collaborative Group
artículo científico publicado en 1998
Current status and recommendations for biomarkers and biobanking in neurofibromatosis
artículo científico publicado en 2016
Current whole-body MRI applications in the neurofibromatoses: NF1, NF2, and schwannomatosis
artículo científico publicado en 2016
Cutaneous lymphangioma and amegakaryocytic thrombocytopenia in Noonan syndrome.
artículo científico publicado en 1991
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2014
Dealing with family history of breast cancer: something new, something old.
artículo científico publicado en 2014
Deciphering the genetics of hereditary non-syndromic colorectal cancer
artículo científico publicado en 2008
Delivering cancer genetics services--new ways of working.
artículo científico publicado en 2007
Dento-osseous changes as diagnostic markers in familial adenomatous polyposis families.
artículo científico publicado en 2003
Desmoid tumours in patients with familial adenomatous polyposis and desmoid region adenomatous polyposis coli mutations
artículo científico publicado en 2007
Detailed mapping of germline deletions of the von Hippel-Lindau disease tumour suppressor gene
artículo científico publicado en 1994
Developing national guidance on genetic testing for breast cancer predisposition: the role of economic evidence?
artículo científico
Development of a scoring system to screen for BRCA1/2 mutations
artículo científico publicado en 2010
Diagnosed with breast cancer while on a family history screening programme: an exploratory qualitative study
artículo científico publicado en 2008
Diagnosed with breast cancer whilst on a family history screening programme: an exploratory qualitative study
artículo científico publicado en 2008
Diagnosis of sporadic neurofibromatosis type 2 in the paediatric population
artículo científico publicado en 2018
Diagnosis, Management, and New Therapeutic Options in Childhood Neurofibromatosis Type 2 and Related Forms
artículo científico
Diagnostic issues in a family with late onset type 2 neurofibromatosis
artículo científico publicado en 1995
Differences in natural history between breast cancers in BRCA1 and BRCA2 mutation carriers and effects of MRI screening-MRISC, MARIBS, and Canadian studies combined
artículo científico publicado en 2012
Differential diagnosis of type 2 neurofibromatosis: molecular discrimination of NF2 and sporadic vestibular schwannomas
artículo científico publicado en 1998
Distribution of breast cancer risk from SNPs and classical risk factors in women of routine screening age in the UK.
artículo científico publicado en 2014
Do women understand the odds? Risk perceptions and recall of risk information in women with a family history of breast cancer
artículo científico publicado en 2003
Dominantly inherited microcephaly, hypotelorism and normal intelligence
artículo científico publicado en 1991
EANO guideline on the diagnosis and treatment of vestibular schwannoma
artículo científico publicado en 2020
Early adaptation of colorectal cancer cells to the peritoneal cavity is associated with activation of 'stemness' programs and local inflammation
artículo científico publicado en 2020
Effect of BRCA Mutations on Metastatic Relapse and Cause-specific Survival After Radical Treatment for Localised Prostate Cancer
artículo científico publicado en 2014
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome
artículo científico publicado en 2008
Effect of chest X-rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators' Group
artículo científico publicado en 2006
Effect of early American results on patients in a tamoxifen prevention trial (IBIS)
artículo científico publicado en 1998
Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
artículo científico publicado en 2012
Effects of oestrogens and anti-oestrogens on normal breast tissue from women bearing BRCA1 and BRCA2 mutations.
artículo científico publicado en 2006
Efficacy of early diagnosis and treatment in women with a family history of breast cancer. European Familial Breast Cancer Collaborative Group.
artículo científico publicado en 1999
Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue
artículo científico publicado en 2004
Elevated breast cancer risk among mothers of a population-based series of 2668 children with cancer
artículo científico publicado en 2008
Eleven novel mutations in the NF2 tumour suppressor gene
article
Eligibility for magnetic resonance imaging screening in the United Kingdom: effect of strict selection criteria and anonymous DNA testing on breast cancer incidence in the MARIBS Study
artículo científico publicado en 2009
Empirical development of improved diagnostic criteria for neurofibromatosis 2
article
Endometrial cancer and venous thromboembolism in women under age 50 who take tamoxifen for prevention of breast cancer: a systematic review.
artículo científico publicado en 2011
Engagement barriers and service inequities in the NHS Breast Screening Programme: Views from British-Pakistani women
scientific article published on 02 December 2019
English consensus protocol evaluating candidacy for auditory brainstem and cochlear implantation in neurofibromatosis type 2.
artículo científico publicado en 2013
Erratum: Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989
article
Estrogen deprivation for breast cancer prevention
artículo científico publicado en 2007
Ethical issues: the geneticist's view point
artículo científico publicado en 1992
Ethical, social and economic issues in familial breast cancer: a compilation of views from the E.C. Biomed II Demonstration Project
artículo científico publicado en 1999
European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer
scientific article published on 22 November 2018
Evaluation of Fanconi Anemia genes in familial breast cancer predisposition
article
Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma
article
Evaluation of a Stratified National Breast Screening Program in the United Kingdom: An Early Model-Based Cost-Effectiveness Analysis
artículo científico publicado en 2017
Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).
artículo científico publicado en 2009
Evaluation of breast cancer risk assessment packages in the family history evaluation and screening programme
artículo científico publicado en 2003
Evaluation of clinical diagnostic criteria for neurofibromatosis 2
artículo científico publicado en 2002
Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium
artículo científico publicado en 2002
Evaluation of mammographic surveillance services in women aged 40-49 years with a moderate family history of breast cancer: a single-arm cohort study.
artículo científico publicado en 2013
Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
artículo científico publicado en 2011
Evaluation of the relative effectiveness of the 2017 updated Manchester scoring system for predicting BRCA1/2 mutations in a Southeast Asian country.
artículo científico publicado en 2017
Evaluation ofRAD50 in familial breast cancer predisposition
Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
artículo científico publicado en 2010
Evidence for a colorectal cancer susceptibility locus on chromosome 3q21-q24 from a high-density SNP genome-wide linkage scan
article
Evidence for a colorectal cancer susceptibility locus on chromosome 3q21–q24 from a high-density SNP genome-wide linkage scan
article
Evidence for an association between compound heterozygosity for germ line mutations in the hemochromatosis (HFE) gene and increased risk of colorectal cancer.
artículo científico publicado en 2005
Evidence of Linkage to Chromosome 9q22.33 in Colorectal Cancer Kindreds from the United Kingdom
article
Evidence of Stage Shift in Women Diagnosed With Ovarian Cancer During Phase II of the United Kingdom Familial Ovarian Cancer Screening Study.
artículo científico publicado en 2017
Exhaustive non-synonymous variants functionality prediction enables high resolution characterization of the neurofibromin architecture
scientific article published on 28 September 2018
Exploring the "two-hit hypothesis" in NF2: tests of two-hit and three-hit models of vestibular schwannoma development.
artículo científico publicado en 2003
Exploring the link between MORF4L1 and risk of breast cancer
artículo científico publicado en 2011
Exposure to diagnostic radiation and risk of breast cancer among carriers of BRCA1/2 mutations: retrospective cohort study (GENE-RAD-RISK).
artículo científico publicado en 2012
Expression of type III hyperlipoproteinemia in patients homozygous for apolipoprotein E-2 is modulated by lipoprotein lipase and postprandial hyperinsulinemia
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artículo científico publicado el 1 de abril de 1998
Factors associated with breast cancer-specific distress in younger women participating in a family history mammography screening programme
artículo científico publicado en 2008
False family history of breast cancer in the family cancer clinic
article
False-negative MRI breast screening in high-risk women.
artículo científico publicado en 2016
Familial Adenomatous Polyposis and Other Polyposis Syndromes.
artículo científico publicado en 1995
Familial Ovarian Cancer Screening
artículo científico publicado en 2006
Familial breast cancer
artículo científico publicado en 2012
Familial breast cancer.
artículo científico publicado en 1994
Familial breast cancer: an investigation into the outcome of treatment for early stage disease
scientific article published on 01 January 2001
Familial breast cancer: is it time to move from a reactive to a proactive role?
artículo científico publicado en 2011
Familial breast cancer: summary of updated NICE guidance
artículo científico publicado en 2013
Familial colorectal cancer referral to regional genetics department--a single centre experience
artículo científico publicado en 2007
Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.
artículo científico publicado en 1996
Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21.
artículo científico publicado en 1994
Family history of breast cancer: referral guidelines changed after acceptance of 10 minute consultation
artículo científico publicado en 2005
Family implications of neonatal Gorlin's syndrome
artículo científico publicado en 1991
Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling
artículo científico publicado en 2013
Fatal congenital cytomegalovirus infection acquired by an intra-uterine transfusion
artículo científico publicado en 1991
Feasibility of Gynaecologist Led Lynch Syndrome Testing in Women with Endometrial Cancer
artículo científico publicado en 2020
Fictitious breast cancer family history
scientific article published in The Lancet
Findings Linking Mismatch Repair Mutation With Age at Endometrial and Ovarian Cancer Onset in Lynch Syndrome—Reply
artículo científico publicado en 2018
Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
artículo científico publicado en 2016
Fine-mapping CASP8 risk variants in breast cancer
artículo científico publicado en 2011
Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes
article
Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
artículo científico publicado en 2020
First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics
scientific article published on 25 March 2019
First evidence of genotype-phenotype correlations in Gorlin syndrome
artículo científico publicado en 2017
Florid oral manifestations in an atypical familial adenomatous polyposis family with late presentation of colorectal polyps.
artículo científico publicado en 1996
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
scientific article published on 22 March 2012
Frequent hSNF5/INI1 Germline Mutations in Patients with Rhabdoid Tumor
article
From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis
scientific article published on 25 March 2019
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
artículo científico publicado en 2016
Further genotype--phenotype correlations in neurofibromatosis 2.
artículo científico publicado en 2009
Gene panel testing for breast cancer should not be used to confirm syndromic gene associations
article
Gene-gene interactions in breast cancer susceptibility
artículo científico publicado en 2011
Gene-panel sequencing and the prediction of breast-cancer risk
artículo científico publicado en 2015
General Practitioners and Breast Surgeons in France, Germany, Netherlands and the UK show variable breast cancer risk communication profiles
artículo científico publicado en 2015
Genetic Severity Score predicts clinical phenotype in NF2.
artículo científico
Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility
artículo científico publicado en 2003
Genetic and functional studies of a germline TP53 splicing mutation in a Li-Fraumeni-like family
artículo científico publicado en 1998
Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer—an European consensus statement and expert recommendations
article
Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome.
artículo científico publicado en 1995
Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes
artículo científico publicado en 2011
Genetic testing and screening of individuals at risk of NF2
artículo científico publicado en 2011
Genetic testing for breast cancer predisposition in 1999: which molecular strategy and which family criteria?
artículo científico publicado en 1999
Genetic testing for cancer predisposition: need and demand.
artículo científico publicado en 1995
Genetic testing for familial/hereditary breast cancer-comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany
artículo científico publicado en 2011
Genetic testing in a cohort of young patients with HER2-amplified breast cancer
artículo científico publicado en 2015
Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds
artículo científico publicado en 2018
Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2010
Genetics of Colorectal Cancer for Clinical Practice
artículo científico publicado en 1994
Genetics of cancer: current knowledge and future possibilities.
artículo científico publicado en 1998
Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
scientific article published on 18 May 2020
Genome-wide association study identifies five new breast cancer susceptibility loci
artículo científico publicado en 2010
Genome-wide association study identifies novel breast cancer susceptibility loci
artículo científico publicado en 2007
Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
artículo científico publicado en 2013
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls
artículo científico publicado en 2010
Genome-wide association study of germline variants and breast cancer-specific mortality
artículo científico publicado en 2019
Genomic analysis of orthologous mouse and human olfactory receptor loci
artículo científico publicado en 2001
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
artículo científico publicado en 2017
Genotype-phenotype correlation in colorectal polyposis
scientific article published on 25 July 2011
Genotype-phenotype correlations for cataracts in neurofibromatosis 2.
artículo científico publicado en 2003
Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study
artículo científico publicado en 2004
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations
artículo científico publicado en 1998
Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families
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artículo científico publicado el 1 de agosto de 1997
Germline <i>TP53</i> Testing in Breast Cancers: Why, When and How?
artículo científico publicado en 2020
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study
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artículo científico publicado en 2018
Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer
artículo científico publicado en 2013
Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer
article
Germline RAD51C mutations confer susceptibility to ovarian cancer
Germline SDHD mutation in familial phaeochromocytoma
artículo científico publicado en 2001
Germline SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas
artículo científico publicado en 2014
Germline and somaticNF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)
article
Germline mutation analysis of the transforming growth factor beta receptor type II (TGFBR2) and E-cadherin (CDH1) genes in early onset and familial colorectal cancer
artículo científico publicado en 2001
Germline mutation of ARF in a melanoma kindred
scientific article published on 01 May 2002
Germline mutations in RAD51D confer susceptibility to ovarian cancer
artículo científico publicado en 2011
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations
artículo científico publicado en 2014
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene
article
Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype–phenotype correlation
article
Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.
artículo científico publicado en 2018
Guidelines for a genetic risk based approach to advising women with a family history of breast cancer. UK Cancer Family Study Group (UKCFSG)
artículo científico publicado en 2000
Guidelines for colorectal cancer screening and surveillance in moderate and high risk groups (update from 2002).
scientific article published on May 2010
Guidelines for follow-up of women at high risk for inherited breast cancer: consensus statement from the Biomed 2 Demonstration Programme on Inherited Breast Cancer
artículo científico publicado en 1999
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes
artículo científico publicado en 2020
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
artículo científico publicado en 2006
Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations
artículo científico publicado en 2012
Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families
artículo científico publicado en 2004
Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2011
Hearing and facial function outcomes for neurofibromatosis 2 clinical trials.
artículo científico publicado en 2013
Hearing optimisation in neurofibromatosis type 2: A systematic review.
artículo científico publicado en 2017
Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study
artículo científico publicado en 2019
Helicobacter pylori does not migrate from the antrum to the corpus in response to omeprazole
artículo científico publicado en 1996
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals
scientific article published on 09 December 2019
Hereditary cancer
artículo científico publicado en 2000
Heredity and dysmorphic syndromes in congenital limb deficiencies
artículo científico publicado en 1991
Heterogeneity in genetic conditions
artículo científico publicado en 1992
High detection rate for BRCA2 mutations in male breast cancer families from North West England
artículo científico publicado en 2001
High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
article
High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?
article
High-Grade Glioma is not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient
artículo científico publicado en 2017
High-resolution array-CGH profiling of germline and tumor-specific copy number alterations on chromosome 22 in patients affected with schwannomas
artículo científico publicado en 2005
High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGH
artículo científico publicado en 2003
Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)
artículo científico publicado en 2017
Hormone replacement therapy and breast cancer
Hyperplastic polyps are innocuous lesions in hereditary nonpolyposis colorectal cancers
artículo científico publicado en 2011
Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
artículo científico publicado en 2017
Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk
artículo científico publicado en 2013
Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2.
artículo científico publicado en 2005
Identification of mutations in the lipoprotein lipase (LPL) and apolipoprotein C-II (APOC2) genes using denaturing high performance liquid chromatography (DHPLC)
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artículo científico publicado el 16 de octubre de 2010
Identification of novel genetic markers of breast cancer survival
artículo científico publicado en 2015
Identification of recurrent regions of chromosome loss and gain in vestibular schwannomas using comparative genomic hybridisation
artículo científico publicado en 2003
Identification of the familial cylindromatosis tumour-suppressor gene
artículo científico publicado en 2000
Identifying High-Risk Women for Endometrial Cancer Prevention Strategies: Proposal of an Endometrial Cancer Risk Prediction Model
artículo científico publicado en 2016
Impact of aromatase inhibitor treatment on global gene expression and its association with antiproliferative response in ER+ breast cancer in postmenopausal patients
scientific article published on 31 December 2019
Impaired tamoxifen metabolism reduces survival in familial breast cancer patients
artículo científico publicado en 2008
Improvement in risk prediction, early detection and prevention of breast cancer in the NHS Breast Screening Programme and family history clinics: a dual cohort study
artículo científico publicado en 2016
Improving the uptake of predictive testing and colorectal screening in Lynch syndrome: a regional primary care survey
artículo científico publicado en 2015
In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2
article
Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database
artículo científico publicado en 2016
Incidence of hereditary non-polyposis colorectal cancer in a population-based study of 1137 consecutive cases of colorectal cancer
artículo científico publicado en 1997
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing
scientific article published on 05 July 2019
Incidence of vestibular schwannoma and neurofibromatosis 2 in the North West of England over a 10-year period: higher incidence than previously thought
artículo científico publicado en 2005
Incorporating progesterone receptor expression into the PREDICT breast prognostic model
artículo científico publicado en 2022
Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.
artículo científico publicado en 2009
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation
artículo científico publicado en 2012
Increased rate of phenocopies in all age groups in BRCA1/BRCA2 mutation kindred, but increased prospective breast cancer risk is confined to BRCA2 mutation carriers
artículo científico publicado en 2013
Increased risk of breast cancer in neurofibromatosis type 1: current insights
artículo científico
Increasing the specificity of diagnostic criteria for schwannomatosis
artículo científico publicado en 2006
Inflammation and Vascular Permeability Correlate With Growth in Sporadic Vestibular Schwannoma
artículo científico publicado en 2019
Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
artículo científico publicado en 2016
Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes
article
Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.
artículo científico publicado en 2008
Initial results of a study into the effectiveness of breast cancer screening in a population identified to be at high risk.
artículo científico publicado en 2001
Insurance implications for individuals with a high risk of breast and ovarian cancer in Europe
artículo científico publicado en 1999
Intensive breast screening in BRCA2 mutation carriers is associated with reduced breast cancer specific and all cause mortality.
artículo científico publicado en 2016
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers
artículo científico publicado en 2019
Intermittent energy restriction induces changes in breast gene expression and systemic metabolism
artículo científico publicado en 2016
International variation in physicians' attitudes towards prophylactic mastectomy - comparison between France, Germany, the Netherlands and the United Kingdom
artículo científico publicado en 2013
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer
artículo científico publicado en 2011
Intrafamilial correlation of clinical manifestations in neurofibromatosis 2 (NF2).
artículo científico publicado en 2002
Intronic splicing mutations in PTCH1 cause Gorlin syndrome.
artículo científico publicado en 2014
Ipsilateral cochlear implantation after cochlear nerve preserving vestibular schwannoma surgery in patients with neurofibromatosis type 2.
artículo científico publicado en 2014
Is It Time to Abandon Microsatellite Instability As a Pre-Screen for Selecting Families for Mutation Testing for Mismatch Repair Genes?
article
Is clinical growth index a reliable predictor of tumour growth in vestibular schwannomas?
artículo científico publicado en 2003
Is multiple SNP testing in BRCA2 and BRCA1 female carriers ready for use in clinical practice? Results from a large Genetic Centre in the UK.
artículo científico publicado en 2012
Is there really an increased risk of early colorectal cancer in women with BRCA1 pathogenic mutations?
scientific article published on 14 November 2015
Isolated unilateral vestibular schwannomas do not harbor HRAS mutations
artículo científico publicado en 2010
Isolation and mapping of polymorphic cosmid clones used for sublocalization of the multiple endocrine neoplasia type 1 (MEN1) locus
artículo científico publicado en 1992
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
scientific article published on 28 February 2019
Lack of caveolin-1 (P132L) somatic mutations in breast cancer
article
Lack of sex-ratio distortion in neurofibromatosis 2
artículo científico publicado en 2000
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
artículo científico publicado en 2019
Late toxicity is not increased in BRCA1/BRCA2 mutation carriers undergoing breast radiotherapy in the United Kingdom
artículo científico publicado en 2006
Li-Fraumeni Exploration Consortium Data Coordinating Center: Building an Interactive Web-based Resource for Collaborative International Cancer Epidemiology Research for a Rare Condition
artículo científico publicado en 2020
Li-Fraumeni syndrome – a molecular and clinical review
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artículo científico publicado el 1 de enero de 1997
Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium
artículo científico publicado en 2012
Life expectancy in hereditary cancer predisposing diseases: an observational study
Lifestyle behaviours and health measures of women at increased risk of breast cancer taking chemoprevention
article
Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13
article
Local breast density at lesion sites in diagnostic and previous screening mammograms.
artículo científico publicado en 2014
Location of gene for Gorlin syndrome
artículo científico publicado en 1992
Long-Term Evaluation of Women Referred to a Breast Cancer Family History Clinic (Manchester UK 1987-2020)
artículo científico publicado en 2020
Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
artículo científico publicado en 2011
Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial
article
Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status
artículo científico publicado en 2010
Long-term prospective clinical follow-up after BRCA1/2 presymptomatic testing: BRCA2 risks higher than in adjusted retrospective studies
artículo científico publicado en 2014
Longer term effects of the Angelina Jolie effect: increased risk-reducing mastectomy rates in BRCA carriers and other high-risk women
artículo científico publicado en 2015
Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2.
artículo científico publicado en 2014
Loss of SUFU function in familial multiple meningioma.
artículo científico publicado en 2012
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas
artículo científico publicado en 2013
Low Lifetime Risk of Contralateral Breast Cancer in a Middle-Income Asian Country: Evidence to Guide Post-treatment Surveillance
artículo científico publicado en 2017
Low prevalence of HER2 positivity amongst BRCA1 and BRCA2 mutation carriers and in primary BRCA screens
artículo científico publicado en 2016
Low prevalence of germline BRCA1 mutations in early onset breast cancer without a family history
artículo científico publicado en 2000
Low rate of TP53 germline mutations in breast cancer/sarcoma families not fulfilling classical criteria for Li-Fraumeni syndrome
artículo científico publicado en 2002
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations
artículo científico publicado en 2002
Lymphocyte telomere length is long in BRCA1 and BRCA2 mutation carriers regardless of cancer-affected status
artículo científico publicado en 2014
Lynch syndrome caused by MLH1 mutations is associated with an increased risk of breast cancer: a cohort study
artículo científico publicado en 2015
Lynch syndrome screening in gynaecological cancers: results of an international survey with recommendations for uniform reporting terminology for mismatch repair immunohistochemistry results
scientific article published on 06 September 2019
MRI Screening in Women With a Personal History of Breast cancer
artículo científico publicado en 2015
MRI breast screening in high-risk women: cancer detection and survival analysis
artículo científico publicado en 2014
MSH2 sequence variations and inherited colorectal cancer susceptibility
artículo científico publicado en 1996
MYH polyposis: A new autosomal recessive form of familial adenomatous polyposis due to defective base excision repair-reappraisal of genetic risk and family management
Magnetic resonance imaging screening in women at genetic risk of breast cancer: imaging and analysis protocol for the UK multicentre study. UK MRI Breast Screening Study Advisory Group
artículo científico publicado en 2000
Magnetic-Field-Assisted Assembly of Layered Double Hydroxide/Metal Porphyrin Ultrathin Films and Their Application for Glucose Sensors
artículo científico publicado en 2011
Mainstreaming germline BRCA1/2 testing in non-mucinous epithelial ovarian cancer in the North West of England
scientific article published on 10 July 2020
Major Impact of Sampling Methodology on Gene Expression in Estrogen Receptor-Positive Breast Cancer
artículo científico publicado en 2018
Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
artículo científico publicado en 2016
Malignant Peripheral Nerve Sheath Tumors are not a Feature of Neurofibromatosis Type 2 in the Unirradiated Patient
artículo científico publicado en 2017
Malignant peripheral nerve sheath tumours in NF1: improved survival in women and in recent years
artículo científico publicado en 2011
Malignant peripheral nerve sheath tumours in inherited disease
artículo científico publicado en 2012
Malignant peripheral nerve sheath tumours in neurofibromatosis 1
artículo científico publicado en 2002
Malignant transformation and new primary tumours after therapeutic radiation for benign disease: substantial risks in certain tumour prone syndromes
artículo científico publicado en 2005
Mammographic density adds accuracy to both the Tyrer-Cuzick and Gail breast cancer risk models in a prospective UK screening cohort
artículo científico publicado en 2015
Mammographic density and breast cancer risk in BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2006
Mammographic surveillance in women aged 35-39 at enhanced familial risk of breast cancer (FH02).
artículo científico publicado en 2014
Management of hereditary breast cancer. European Familial Breast Cancer Collaborative Group
artículo científico publicado en 1999
Management of the patient and family with neurofibromatosis 2: a consensus conference statement
artículo científico publicado en 2005
Management of women at high risk of breast cancer
artículo científico
Management of women with a family history of breast cancer in the North West Region of England: training for implementing a vision of the future
artículo científico publicado en 2002
Mastectomies of healthy, contralateral breasts in patients with breast cancer
artículo científico publicado en 2013
Maternal gene effect in neurofibromatosis 2: fact or artefact?
artículo científico publicado en 2001
Mechanisms of Disease: prediction and prevention of breast cancer--cellular and molecular interactions
artículo científico publicado en 2005
Men in breast cancer families: a preliminary qualitative study of awareness and experience
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artículo científico publicado el 1 de septiembre de 1998
Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
scientific article published on 19 June 2019
Mendelian randomisation study of smoking exposure in relation to breast cancer risk
artículo científico publicado en 2021
Menopausal symptoms and bone health in women undertaking risk reducing bilateral salpingo-oophorectomy: significant bone health issues in those not taking HRT.
artículo científico publicado en 2011
Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33
artículo científico publicado en 2010
Metachronous colorectal cancer risk in patients with a moderate family history
artículo científico publicado en 2013
Methodological issues in longitudinal studies: vestibular schwannoma growth rates in neurofibromatosis 2.
artículo científico publicado en 2005
Microsatellite instability in early onset and familial colorectal cancer.
artículo científico publicado en 1996
Misleading linkage results in an NF2 presymptomatic test owing to mosaicism
artículo científico publicado en 1997
Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes
artículo científico publicado en 2011
Molecular Mechanisms and their Clinical Application in Malignancies.
artículo científico publicado en 1992
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis
scientific article published on 19 February 2008
Molecular genetic analysis of exons 1 to 6 of the APC gene in non-polyposis familial colorectal cancer
article
Molecular genetic analysis of the NF2 gene in young patients with unilateral vestibular schwannomas.
artículo científico publicado en 2002
Molecular genetics and endometrial cancer
artículo científico publicado en 2001
Molecular stool screening for colorectal cancer
artículo científico publicado en 2004
Mononucleotide microsatellite instability and germline MSH6 mutation analysis in early onset colorectal cancer
artículo científico publicado en 1999
Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study
artículo científico publicado en 2006
Mortality in neurofibromatosis 1: in North West England: an assessment of actuarial survival in a region of the UK since 1989.
artículo científico publicado en 2011
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer
artículo científico publicado en 2013
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification
artículo científico publicado en 2007
Multifocality in neurofibromatosis type 2.
artículo científico publicado en 2014
Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
artículo científico publicado en 2013
Multiple meningiomas: differential involvement of the NF2 gene in children and adults
artículo científico publicado en 2005
Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2.
artículo científico publicado en 2015
Mutation and association analysis of GEN1 in breast cancer susceptibility
artículo científico publicado en 2010
Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis.
artículo científico publicado en 2004
Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome
artículo científico publicado en 1996
Mutation type and position varies between mosaic and inherited NF2 and correlates with disease severity
artículo científico publicado en 2012
Mutation-Specific Survival of Inherited Breast Cancer
artículo científico publicado en 1999
Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations
artículo científico publicado en 2018
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
artículo científico publicado en 2014
National survey of patients with Gorlin syndrome highlights poor awareness, multiple treatments and profound psychosocial impact of disease
artículo científico publicado en 2014
Neurofibromatosis 2
artículo científico publicado en 2018
Neurofibromatosis 2 (NF2) and Malignant Mesothelioma in a Man with a Constitutional NF2 Missense Mutation
artículo científico publicado en 2005
Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II].
artículo científico publicado en 2009
Neurofibromatosis 2, radiosurgery and malignant nervous system tumours
artículo científico publicado en 2000
Neurofibromatosis 2011: a report of the Children's Tumor Foundation annual meeting.
artículo científico publicado en 2011
Neurofibromatosis Type 2
artículo científico publicado en 2011
Neurofibromatosis type 1 and autism spectrum disorder
artículo científico publicado en 2013
Neurofibromatosis type 1 and sporadic optic gliomas.
artículo científico publicado en 2002
Neurofibromatosis type 2
artículo científico publicado en 2000
Neurofibromatosis type 2
artículo científico publicado en 2015
Neurofibromatosis type 2 (NF2): a clinical and molecular review
artículo científico publicado en 2009
Neurofibromatosis type 2 (NF2): diagnosis and management
artículo científico publicado en 2013
Neurofibromatosis type 2 and related disorders
artículo científico publicado en 2019
Neurofibromatosis type 2 service delivery in England
artículo científico publicado en 2016
Neurofibromatosis type 2: Multiple intra-dermal tumors in a toddler
scientific article published on 03 April 2017
Neurofibromatosis type 2: genetic and clinical features
artículo científico publicado en 1999
Neurofibromatosis/Noonan phenotype: a variable feature of type 1 neurofibromatosis
artículo científico publicado en 1996
Neurosurgical contribution within a complex NF1 supraregional service
scientific article published on 04 March 2019
New approaches to the endocrine prevention and treatment of breast cancer
artículo científico publicado en 2003
New evidence confirms that reproductive risk factors can be used to stratify breast cancer risks: Implications for a new population screening paradigm
scientific article published on 26 November 2019
Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.
artículo científico publicado en 2009
News on the genetics, epidemiology, medical care and translational research of Schwannomas
artículo científico publicado en 2006
No evidence that GATA3 rs570613 SNP modifies breast cancer risk
scientific article published on 11 December 2008
No strong evidence for increased risk of breast cancer 8-26 years after multiple mammograms in their 30s in females at moderate and high familial risk
artículo científico publicado en 2016
No useful role for fine needle aspiration as a marker for familial breast cancer
artículo científico publicado en 2000
Non-Uptake of Predictive Genetic Testing for BRCA1/2 among Relatives of Known Carriers: Attributes, Cancer Worry, and Barriers to Testing in a Multicenter Clinical Cohort
scientific article published on 01 January 2004
Non-expression of von Hippel-Lindau phenotype in an obligate gene carrier
article
Non-penetrance and late appearance of polyps in families with familial adenomatous polyposis.
artículo científico publicado en 1993
Non-random transmission of mutant alleles to female offspring in BRCA carriers
artículo científico publicado en 2005
Obesity, Aspirin, and Risk of Colorectal Cancer in Carriers of Hereditary Colorectal Cancer: A Prospective Investigation in the CAPP2 Study
artículo científico publicado en 2015
Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers
artículo científico publicado en 2010
Optimal Selection of Individuals for BRCA Mutation Testing
artículo científico publicado en 2006
Optimal age to start preventive measures in women withBRCA1/2mutations or high familial breast cancer risk
artículo científico publicado en 2013
Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2002
Oral contraceptives and the risk of hereditary ovarian cancer. Hereditary Ovarian Cancer Clinical Study Group
artículo científico publicado en 1998
Osteoprotegerin (OPG), The Endogenous Inhibitor of Receptor Activator of NF-κB Ligand (RANKL), is Dysregulated in BRCA Mutation Carriers
artículo científico publicado en 2015
Outcome from surgery for vestibular schwannomas in children
scientific article published on June 2009
Outcome of translabyrinthine surgery for vestibular schwannoma in neurofibromatosis type 2.
artículo científico publicado en 2013
Outcomes of cochlear implantation in patients with neurofibromatosis type 2.
artículo científico publicado en 2016
Ovarian cancer among 8,005 women from a breast cancer family history clinic: no increased risk of invasive ovarian cancer in families testing negative for BRCA1 and BRCA2.
artículo científico publicado en 2013
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2012
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene
artículo científico publicado en 2007
PARP inhibitors in platinum-sensitive high-grade serous ovarian cancer
artículo científico publicado en 2018
PB.11: Identifying women at high risk of developing breast cancer: implications of adjusting for inter-observer variability in visual analogue scale assessment of percentage breast density.
artículo científico publicado en 2013
PB.17: Inter-observer agreement in visual analogue scale assessment of percentage breast density
artículo científico publicado en 2013
PB.18: Factors affecting breast density assessment
artículo científico publicado en 2013
PB.21: Relationship between volumetric breast density and socioeconomic status
artículo científico publicado en 2013
PB.23. Breast density in previous screening mammograms of women with and without breast cancer.
artículo científico publicado en 2014
PB.24. How does volumetric breast density change with time?
artículo científico publicado en 2014
PB.25: Relationship between volumetric breast density, age and hormonal factors
artículo científico publicado en 2013
PB.44: Audit of interval cancers from family history breast screening
artículo científico publicado en 2013
Paediatric presentation of type 2 neurofibromatosis
artículo científico publicado en 1999
Panel discussion
article
Parity and breast cancer risk among BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2006
Pathogenesis of vestibular schwannoma in ring chromosome 22
artículo científico publicado en 2009
Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer.
scientific article published on 05 January 2017
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes
artículo científico publicado en 2022
Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
artículo científico publicado en 2011
Pathology update to the Manchester Scoring System based on testing in over 4000 families.
artículo científico publicado en 2017
Patterns of associations of clinical features in neurofibromatosis 1 (NF1).
artículo científico publicado en 2002
Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.
artículo científico
Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family
artículo científico publicado en 2008
Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?
artículo científico publicado en 2018
Perceived fatigue in children and young adults with neurofibromatosis type 1
artículo científico publicado en 2020
Perception of risk in women with a family history of breast cancer
artículo científico publicado en 1993
Personalised Risk Prediction in Hereditary Breast and Ovarian Cancer: A Protocol for a Multi-Centre Randomised Controlled Trial
artículo científico publicado en 2022
Personalized prevention in high risk individuals: Managing hormones and beyond
artículo científico publicado en 2018
Phase 0 trial investigating the intratumoural concentration and activity of sorafenib in neurofibromatosis type 2
scientific article published on 04 February 2019
Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening
artículo científico publicado en 2006
Physical localisation of the breakpoints of a constitutional translocation t(5;6)(q21;q21) in a child with bilateral Wilms' tumour.
artículo científico publicado en 1997
Physical mapping of the NF2/meningioma region on human chromosome 22q12.
artículo científico publicado en 1994
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
artículo científico publicado en 2019
Polymorphisms of CYP19A1 and response to aromatase inhibitors in metastatic breast cancer patients
artículo científico
Population based testing of non-mucinous epithelial ovarian cancer in Scotland
artículo científico publicado en 2018
Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649).
artículo científico publicado en 2014
Positive predictive value of mammographic features on digital breast tomosynthesis.
artículo científico publicado en 2015
Predicting compliance in a breast cancer prevention trial
artículo científico publicado en 2006
Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype
artículo científico publicado en 2005
Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores
artículo científico publicado en 2017
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history
artículo científico publicado en 2003
Prediction of reader estimates of mammographic density using convolutional neural networks
article
Predictive genetic testing for BRCA1/2 in a UK clinical cohort: three-year follow-up
artículo científico publicado en 2007
Predictive testing for BRCA1/2: attributes, risk perception and management in a multi-centre clinical cohort
artículo científico publicado en 2002
Predictors of the risk of mortality in neurofibromatosis 2
artículo científico publicado en 2002
Preferences for breast cancer risk reduction among BRCA1/BRCA2 mutation carriers: a discrete-choice experiment
artículo científico
Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)
artículo científico publicado en 2006
Preparation of Fe3O4@SiO2@layered double hydroxide core-shell microspheres for magnetic separation of proteins
artículo científico publicado en 2012
Prevalence of BRCA1 and BRCA2 mutations in triple negative breast cancer
artículo científico publicado en 2011
Prevalence of adenomas and hyperplastic polyps in mismatch repair mutation carriers among CAPP2 participants: report by the colorectal adenoma/carcinoma prevention programme 2.
artículo científico publicado en 2008
Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases
scientific article published on 25 January 2019
Prevention and genetic testing for breast cancer: variations in medical decisions
article
Prevention of breast cancer in the context of a national breast screening programme
scientific article published on 01 April 2012
Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families
scientific article published on 26 February 2008
Probability of bilateral disease in people presenting with a unilateral vestibular schwannoma
artículo científico publicado en 1999
Progress of hearing loss in neurofibromatosis type 2: implications for future management
artículo científico publicado en 2014
Prophylactic mastectomy and breast cancer
artículo científico publicado en 2013
Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations
artículo científico publicado en 2002
Prostate Cancer Risks for Male BRCA1 and BRCA2 Mutation Carriers: A Prospective Cohort Study
scientific article published on 06 September 2019
Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis.
artículo científico publicado en 2010
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition
artículo científico publicado en 2018
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
artículo científico publicado en 2018
Protocol for a national multi-centre study of magnetic resonance imaging screening in women at genetic risk of breast cancer
artículo científico publicado en 2000
Psychological impact and acceptability of magnetic resonance imaging and X-ray mammography: the MARIBS Study.
artículo científico publicado en 2011
Psychological impact of providing women with personalised 10-year breast cancer risk estimates
article
Psychological support needs for women at high genetic risk of breast cancer: some preliminary indicators
artículo científico publicado en 1998
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY)
scientific article published on 12 November 2019
Psychosocial impact of breast/ovarian (BRCA1/2) cancer-predictive genetic testing in a UK multi-centre clinical cohort
artículo científico publicado en 2004
Psychosocial issues of a population approach to high genetic risk identification: Behavioural, emotional and informed choice issues
artículo científico publicado en 2017
Publisher Correction: Shared heritability and functional enrichment across six solid cancers
scientific article published on 23 September 2019
RASSF1A polymorphism in familial breast cancer
artículo científico publicado en 2010
RAZOR: A Phase II Open Randomized Trial of Screening Plus Goserelin and Raloxifene Versus Screening Alone in Premenopausal Women at Increased Risk of Breast Cancer
artículo científico publicado en 2017
Radial ray defects, renal ectopia, duodenal atresia and hydrocephalus: the extended spectrum for Fanconi anaemia
artículo científico publicado en 1994
Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance
artículo científico publicado en 2006
Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA).
artículo científico publicado en 2018
Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm
artículo científico publicado en 2018
Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas
scientific article published on 23 August 2010
Rationale for a national multi-centre study of magnetic resonance imaging screening in women at genetic risk of breast cancer
artículo científico publicado en 2000
Re-evaluating genetic variants identified in candidate gene studies of breast cancer risk using data from nearly 280,000 women of Asian and European ancestry
scientific article published on 16 October 2019
Re: Characterization of Hereditary Nonpolyposis Colorectal Cancer Families From a Population-Based Series of Cases
scientific article published on 01 May 2001
Re: risk-reduction mastectomy: clinical issues and research needs
artículo científico publicado en 2002
Reader performance in visual assessment of breast density using visual analogue scales: are some readers more predictive of breast cancer?
Recent developments in neurofibromatoses and RASopathies: management, diagnosis and current and future therapeutic avenues
artículo científico publicado en 2014
Recommendations for imaging tumor response in neurofibromatosis clinical trials
artículo científico publicado en 2013
Recurrent germline mutation in MSH2 arises frequently de novo
artículo científico publicado en 2000
Red clover isoflavones are safe and well tolerated in women with a family history of breast cancer
artículo científico publicado en 2008
Reduced life expectancy seen in hereditary diseases which predispose to early-onset tumors
scientific article published on 24 July 2013
Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
artículo científico publicado en 2014
Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer
article
Reflector-guided Localization of Non-palpable Breast Lesions: The First Reported European Evaluation of the SAVI SCOUT® System
artículo científico publicado en 2020
Relative frequency and morphology of cancers in carriers of germline TP53 mutations
article
Repeatability of breast density visual assessment.
artículo científico publicado en 2012
Reply to Kratz et al
artículo científico publicado en 2020
Reproductive and hormonal factors, and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers: results from the International BRCA1/2 Carrier Cohort Study
artículo científico publicado en 2009
Reproductive decision-making in young female carriers of a BRCA mutation
artículo científico publicado en 2013
Resequencing the Apolipoprotein A5 (APOA5) gene in patients with various forms of hypertriglyceridemia
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artículo científico publicado el 24 de septiembre de 2011
Response to Santoro et al
artículo científico publicado en 2014
Response to correspondence on “Phenocopies in BRCA1 and BRCA2 families: evidence for modifier genes and implications for screening”.
artículo científico publicado en 2007
Results of annual screening in phase I of the United Kingdom familial ovarian cancer screening study highlight the need for strict adherence to screening schedule
artículo científico publicado en 2012
Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing
scientific article published on 06 December 2019
Review of radiation therapy services for neurofibromatosis (NF2) patients in England
artículo científico
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis.
artículo científico publicado en 2016
Risk algorithms that include pathology adjustment for HER2 amplification need to make further downward adjustments in likelihood scores
artículo científico publicado en 2016
Risk assessment and management of high risk familial breast cancer
artículo científico publicado en 2002
Risk determination and prevention of breast cancer
artículo científico publicado en 2014
Risk estimation as a decision-making tool for genetic analysis of the breast cancer susceptibility genes. EC Demonstration Project on Familial Breast Cancer
artículo científico publicado en 1999
Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in BRCA1, BRCA2, and TP53 Genes in Women with Very Early-Onset (<36 Years) Breast Cancer
scientific article published on 07 February 2020
Risk of breast cancer in male BRCA2 carriers
artículo científico publicado en 2010
Risk of cancer other than breast or ovarian in individuals with BRCA1 and BRCA2 mutations
artículo científico publicado en 2012
Risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a 30-year semi-prospective analysis
artículo científico publicado en 2015
Risk of subsequent primary cancers in patients with carcinoma of the Ampulla of Vater
artículo científico publicado en 1997
Risk perception and cancer worry: an exploratory study of the impact of genetic risk counselling in women with a family history of breast cancer
artículo científico publicado en 2001
Risk reducing mastectomy: outcomes in 10 European centres.
artículo científico publicado en 2008
Risk reducing salpingectomy and delayed oophorectomy in high risk women: views of cancer geneticists, genetic counsellors and gynaecological oncologists in the UK.
artículo científico publicado en 2015
Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database
scientific article published on 18 July 2020
Risk-based breast cancer screening strategies in women
scientific article published on 18 November 2019
Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report
artículo científico publicado en 2020
Risk-reducing mastectomy rates in the US: a closer examination of the Angelina Jolie effect
article by Alexander Liede et al published September 2018 in Breast Cancer Research and Treatment
Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study
artículo científico publicado en 2008
Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers
scientific article published on 16 January 2020
Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk
artículo científico publicado en 2009
Risk-reducing surgery increases survival in BRCA1/2 mutation carriers unaffected at time of family referral
artículo científico publicado en 2013
Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers
artículo científico publicado en 2017
Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study
artículo científico publicado en 2018
Risks of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers.
artículo científico publicado en 2010
Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk men.
artículo científico publicado en 2013
SMARCB1 mutations are not a common cause of multiple meningiomas
artículo científico publicado en 2010
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors
artículo científico publicado en 2014
SMARCE1 mutations in pediatric clear cell meningioma: case report
artículo científico
Sarcoma in neurofibromatosis 2: case report and review of the literature
artículo científico publicado en 2019
Schwannomatosis: a genetic and epidemiological study
scholarly article by Gareth Evans et al published 16 June 2018 in Journal of Neurology, Neurosurgery and Psychiatry
Screening by mammography, women with a family history of breast cancer
artículo científico publicado en 1998
Screening for familial ovarian cancer: failure of current protocols to detect ovarian cancer at an early stage according to the international Federation of gynecology and obstetrics system
artículo científico publicado en 2005
Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers
artículo científico publicado en 2008
Screening of patients at high risk of colorectal cancer
artículo científico publicado en 2001
Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS).
artículo científico publicado en 2005
Screening younger women with a family history of breast cancer – does early detection improve outcome?
artículo científico publicado en 2006
Second primary tumors in neurofibromatosis 1 patients treated for optic glioma: substantial risks after radiotherapy.
artículo científico publicado en 2006
Seminar on ethical issues arising from molecular studies in human genetic disease: held under the auspices of the UK Cancer Family Study Group in Manchester--21st May 1992
artículo científico publicado el 1 de julio de 1992
Semiquantitative assessment of immunohistochemistry for mismatch repair proteins in Lynch syndrome
artículo científico publicado en 2010
Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction
artículo científico publicado en 2005
Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families
artículo científico publicado en 2003
Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing
artículo científico publicado en 2016
Shared heritability and functional enrichment across six solid cancers
artículo científico publicado en 2019
Shared heritability and functional enrichment across six solid cancers
Should NF2 mutation screening be undertaken in patients with an apparently isolated vestibular schwannoma?
artículo científico publicado en 2007
Should unaffected female BRCA2 pathogenic variant carriers be told there is little or no advantage from risk reducing mastectomy?
scientific article published on 01 October 2019
Size and growth rate of sporadic vestibular schwannoma: predictive value of information available at presentation
artículo científico publicado en 2005
Somatic mosaicism in neurofibromatosis 2: prevalence and risk of disease transmission to offspring
artículo científico publicado en 2003
Somatic mosaicism: a common cause of classic disease in tumor-prone syndromes? Lessons from type 2 neurofibromatosis
artículo científico publicado en 1998
Space infections of the head and neck--the "new" clinical picture
artículo científico publicado en 1991
Spinal and cutaneous schwannomatosis is a variant form of type 2 neurofibromatosis: a clinical and molecular study
artículo científico publicado en 1997
Spinal ependymomas in NF2: a surgical disease?
artículo científico publicado en 2017
Spinal tumors in neurofibromatosis type 2. Is emerging knowledge of genotype predictive of natural history?
artículo científico publicado en 2005
Sporadic vestibular schwannoma: a molecular testing summary
artículo científico publicado en 2020
Stereotactic radiosurgery XI. Acoustic neuroma therapy and radiation oncogenesis
artículo científico publicado en 2000
Strategies for endometrial screening in the Lynch syndrome population: a patient acceptability study
artículo científico publicado en 2009
Strategies for identifying hereditary nonpolyposis colon cancer
artículo científico publicado en 2007
Successful radiofrequency ablation of an anterior abdominal wall desmoid in familial adenomatous polyposis
artículo científico publicado en 2013
Suggested screening guidelines for familial colorectal cancer
artículo científico publicado en 1995
Surgical decisions made by 158 women with hereditary breast cancer aged <50 years
artículo científico publicado en 2005
Surveillance for familial breast cancer: Differences in outcome according toBRCA mutation status
artículo científico publicado en 2007
Surveillance of women at increased risk of breast cancer using mammography and clinical breast examination: further evidence of benefit
artículo científico publicado en 2011
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
scientific article published on 14 October 2019
Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics,BRCAmutations and oophorectomy
article
Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds
artículo científico publicado en 2009
Systematic review of the empirical investigation of resources to support decision-making regarding BRCA1 and BRCA2 genetic testing in women with breast cancer
artículo científico publicado en 2017
Systematic review of the impact of registration and screening on colorectal cancer incidence and mortality in familial adenomatous polyposis and Lynch syndrome
artículo científico
TP53, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes
artículo científico publicado en 2020
Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study
artículo científico publicado en 2014
Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study
artículo científico publicado en 2010
The Angelina Jolie effect: how high celebrity profile can have a major impact on provision of cancer related services
artículo científico publicado en 2014
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions
artículo científico publicado en 2008
The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions.
artículo científico publicado en 2008
The BRCA1/2 Parent-of-Origin Effect on Breast Cancer Risk-Letter
artículo científico publicado en 2017
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
scientific article published on 01 November 2019
The Fragile X Protein binds mRNAs involved in cancer progression and modulates metastasis formation
artículo científico publicado en 2014
The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians
article
The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families
artículo científico publicado en 2012
The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome
scientific article published on 28 March 2019
The Manchester guidelines for contralateral risk-reducing mastectomy
artículo científico publicado en 2015
The Neurofibromatoses: A Pathogenetic and Clinical Review.
artículo científico publicado en 1994
The TP53 Arg72Pro and MDM2 309G>T polymorphisms are not associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2009
The UK national study of magnetic resonance imaging as a method of screening for breast cancer (MARIBS)
artículo científico publicado en 2002
The accuracy of diagnoses as reported in families with cancer: a retrospective study.
artículo científico publicado en 1999
The association between weight at birth and breast cancer risk revisited using Mendelian randomisation
The association of the R219K polymorphism in the ATP-binding cassette transporter 1 (ABCA1) gene with coronary heart disease and hyperlipidaemia
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artículo científico publicado el 26 de marzo de 2003
The dental phenotype in familial adenomatous polyposis: diagnostic application of a weighted scoring system for changes on dental panoramic radiographs
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artículo científico publicado en 1995
The development and evaluation of alternative communication strategies to facilitate interactions with Somali refugees in primary care: a preliminary study.
artículo científico publicado en 2006
The effect of intermittent energy and carbohydrate restriction v. daily energy restriction on weight loss and metabolic disease risk markers in overweight women
artículo científico publicado en 2013
The effects of intermittent or continuous energy restriction on weight loss and metabolic disease risk markers: a randomized trial in young overweight women
artículo científico publicado en 2010
The fragile X protein binds mRNAs involved in cancer progression and modulates metastasis formation
artículo científico publicado en 2013
The future of breast cancer prevention.
artículo científico publicado en 2005
The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma
artículo científico publicado en 1997
The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based study
artículo científico publicado en 1999
The genetic interplay between body mass index, breast size and breast cancer risk: a Mendelian randomization analysis
scientific article published on 01 June 2019
The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs).
artículo científico publicado en 2006
The impact of a panel of 18 SNPs on breast cancer risk in women attending a UK familial screening clinic: a case-control study
artículo científico publicado en 2016
The impact of genetic counselling on risk perception in women with a family history of breast cancer
artículo científico publicado en 1994
The impact of new screening protocol on individuals at increased risk of colorectal cancer
scientific article published on 01 September 2007
The impact of screening and genetic registration on mortality and colorectal cancer incidence in familial adenomatous polyposis
artículo científico publicado en 2010
The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma
artículo científico publicado en 1991
The introduction of risk stratified screening into the NHS breast screening Programme: views from British-Pakistani women
artículo científico publicado en 2020
The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2.
artículo científico publicado en 2005
The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study
scientific article published on 17 September 2020
The relationship between patients' perception of the effects of neurofibromatosis type 2 and the domains of the Short Form-36.
artículo científico publicado en 2010
The relative importance of common and rare genetic variants in the development of hypertriglyceridemia
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artículo científico publicado el 1 de mayo de 2011
The response of spinal cord ependymomas to bevacizumab in patients with neurofibromatosis Type 2.
artículo científico publicado en 2016
The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine
artículo científico publicado en 2010
The spectrum of urological malignancy in Lynch syndrome
artículo científico publicado en 2013
TheBRCA2polymorphic stop codon: stuff or nonsense?
artículo científico publicado en 2015
Threshold for genetic testing in women with breast cancer needs to be determined
artículo científico publicado en 2014
Toxicity profile of bevacizumab in the UK Neurofibromatosis type 2 cohort.
artículo científico publicado en 2016
Trends in phenotype in the English paediatric neurofibromatosis type 2 cohort stratified by genetic severity
artículo científico publicado en 2019
Trigeminal schwannomas.
scientific article published on December 2008
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
article
Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.
artículo científico publicado en 2010
Tumour MLH1 promoter region methylation testing is an effective prescreen for Lynch Syndrome (HNPCC).
artículo científico publicado en 2014
Tumour characteristics and survival in familial breast cancer prospectively diagnosed by annual mammography
artículo científico publicado en 2015
Two Out of Three Required
article published in 2011
Two truncating variants in FANCC and breast cancer risk
artículo científico publicado en 2019
Type 2 neurofibromatosis: the need for supraregional care?
artículo científico publicado en 1993
UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
artículo científico publicado en 2020
Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.
artículo científico publicado en 2013
Update from the 2013 International Neurofibromatosis Conference
artículo científico publicado en 2014
Update on genetic predisposition to breast cancer
artículo científico publicado en 2009
Update on the Manchester Scoring System for BRCA1 and BRCA2 testing
artículo científico publicado en 2005
Uptake of breast cancer prevention and screening trials
artículo científico publicado en 2010
Uptake of chloride ion from aqueous solution by calcined layered double hydroxides: equilibrium and kinetic studies
artículo científico publicado en 2006
Uptake of genetic testing for cancer predisposition.
artículo científico publicado en 1997
Uptake of pre-symptomatic testing for BRCA1 and BRCA2 is age, gender, offspring and time-dependent
artículo científico publicado en 2020
Uptake of risk-reducing salpingo-oophorectomy in women carrying a BRCA1 or BRCA2 mutation: evidence for lower uptake in women affected by breast cancer and older women
artículo científico publicado en 2011
Uptake of risk-reducing surgery in unaffected women at high risk of breast and ovarian cancer is risk, age, and time dependent
artículo científico publicado en 2009
Uptake of tamoxifen in consecutive premenopausal women under surveillance in a high-risk breast cancer clinic.
artículo científico publicado en 2014
Urgent improvements needed to diagnose and manage Lynch syndrome
artículo científico publicado en 2017
Use of Cytology to Diagnose Inherited Breast Cancer
Use of MRI and audiological tests in presymptomatic diagnosis of type 2 neurofibromatosis (NF2).
artículo científico publicado en 2000
Use of Single-Nucleotide Polymorphisms and Mammographic Density Plus Classic Risk Factors for Breast Cancer Risk Prediction
artículo científico publicado en 2018
Use of a closed set questionnaire to measure primary and secondary effects of neurofibromatosis type 2.
artículo científico publicado en 2010
Use of anastrozole for breast cancer prevention (IBIS-II): long-term results of a randomised controlled trial
scientific article published on 12 December 2019
Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers
artículo científico publicado en 2014
Utilisation of prophylactic mastectomy in 10 European centres
artículo científico publicado en 1999
Validation of a scale for assessing attitudes towards outcomes of genetic cancer testing among primary care providers and breast specialists
artículo científico publicado en 2017
Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility
artículo científico publicado en 2003
Variation in prophylactic surgery decisions
artículo científico publicado en 2000
Variation of expression of the gene for type 2 neurofibromatosis: absence of a gender effect on vestibular schwannomas, but confirmation of a preponderance of meningiomas in females
article
Vascular biomarkers derived from dynamic contrast-enhanced MRI predict response of vestibular schwannoma to antiangiogenic therapy in type 2 neurofibromatosis
artículo científico publicado en 2015
Vestibular schwannoma: role of conservative management
artículo científico publicado en 2009
Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis
artículo científico publicado en 2011
Volumetric and Area-Based Breast Density Measurement in the Predicting Risk of Cancer at Screening (PROCAS) Study
WAGR syndrome and multiple exostoses in a patient with del(11)(p11.2p14.2).
artículo científico publicado en 1995
Well-dispersed Co3O4/Co2MnO4 nanocomposites as a synergistic bifunctional catalyst for oxygen reduction and oxygen evolution reactions
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artículo científico publicado el 21 de junio de 2013
Well-dispersed bi-component-active CoO/CoFe2O4nanocomposites with tunable performances as anode materials for lithium-ion batteries
artículo científico publicado en 2011
What are the implications in individuals with unilateral vestibular schwannoma and other neurogenic tumors?
scientific article published on 01 January 2008
White Blood Cell BRCA1 Promoter Methylation Status and Ovarian Cancer Risk
artículo científico publicado en 2018
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening
artículo científico publicado en 2007
Women's attitudes toward preventive strategies for hereditary breast or ovarian carcinoma differ from one country to another: differences among English, French, and Canadian women
artículo científico publicado en 2001
Women's decision-making regarding risk-stratified breast cancer screening and prevention from the perspective of international healthcare professionals.
artículo científico publicado en 2018
Women's perceptions of personalized risk-based breast cancer screening and prevention: An international focus group study
artículo científico publicado en 2019
Young age at first pregnancy does protect against early onset breast cancer in BRCA1 and BRCA2 mutation carriers.
artículo científico publicado en 2017
[18F]fluorothymidine and [18F]fluorodeoxyglucose PET Imaging Demonstrates Uptake and Differentiates Growth in Neurofibromatosis 2 Related Vestibular Schwannoma
artículo científico publicado en 2019
‘For me it's about not feeling like I'm on a diet’: a thematic analysis of women's experiences of an intermittent energy restricted diet to reduce breast cancer risk
artículo científico publicado en 2018