Filtros de búsqueda

Lista de obras de Diana Eccles

"It's Like We Don't Exist": Tailoring Education for Young Women Undergoing Surgery for Early-Stage Breast Cancer

artículo científico publicado en 2018

19p13.1 is a triple-negative-specific breast cancer susceptibility locus

artículo científico publicado en 2012

2q36.3 is associated with prognosis for oestrogen receptor-negative breast cancer patients treated with chemotherapy

artículo científico publicado en 2014

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 Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk

article

A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer

artículo científico publicado en 2011

A genome wide linkage search for breast cancer susceptibility genes

artículo científico publicado en 2006

A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis

artículo científico publicado en 2014

A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24.

artículo científico publicado en 2010

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 meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.

artículo científico publicado en 2012

A network analysis to identify mediators of germline-driven differences in breast cancer prognosis

artículo científico publicado en 2020

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 duplication polymorphism in the FANCA promoter and its association with breast and ovarian cancer

artículo científico publicado en 2005

A novel tumour-based test to identify breast cancer due to BRCA1 and BRCA2 mutations.

artículo científico publicado en 2010

A randomised comparison of UK genetic risk counselling services for familial cancer: psychosocial outcomes.

artículo científico publicado en 2004

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 transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer

artículo científico publicado en 2018

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

artículo científico publicado en 2006

Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22

article

Abstract

Abstract B046: Therapeutic targeting of integrin αvβ6 in high-risk breast cancer

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

Adult body mass index and risk of ovarian cancer by subtype: a Mendelian randomization study

artículo científico

Adult height is associated with increased risk of ovarian cancer: a Mendelian randomisation study.

artículo científico publicado en 2018

An Association of Cancer Physicians' strategy for improving services and outcomes for cancer patients ⬇️

artículo científico publicado en 2016

An evaluation of the prognostic model PREDICT using the POSH cohort of women aged ⩽40 years at breast cancer diagnosis

artículo científico publicado en 2015

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 updated PREDICT breast cancer prognostication and treatment benefit prediction model with independent validation

artículo científico publicado en 2017

Analysis of KLLN as a high-penetrance breast cancer predisposition gene

artículo científico publicado en 2012

Analysis of RAD51D in ovarian cancer patients and families with a history of ovarian or breast cancer

artículo científico publicado en 2013

Analysis of genetic and phenotypic heterogeneity in juvenile polyposis

artículo científico publicado en 2000

Analysis of over 10,000 Cases finds no association between previously reported candidate polymorphisms and ovarian cancer outcome

artículo científico publicado en 2013

Apoptosis, ageing and cancer susceptibility.

artículo científico publicado en 2003

Assessing the genetic architecture of epithelial ovarian cancer histological subtypes

artículo científico publicado en 2016

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy

artículo científico publicado en 2015

Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer

artículo científico publicado en 2016

Association analysis identifies 65 new breast cancer risk loci.

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 type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

artículo científico publicado en 2015

Association of vitamin D levels and risk of ovarian cancer: a Mendelian randomization study

artículo científico publicado en 2016

Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival

scholarly article

Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies

artículo científico publicado en 2010

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

Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

artículo científico publicado en 2003

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

artículo científico publicado en 2003

BRCA1 Circos: a visualisation resource for functional analysis of missense variants

artículo científico publicado en 2015

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk

scientific article published on August 2012

BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance

artículo científico publicado en 2015

BRCA1 mutation and neuronal migration defect: implications for chemoprevention.

artículo científico publicado en 2005

BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years

artículo científico publicado en 2012

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers

artículo científico publicado en 2015

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

Body mass index and breast cancer survival: a Mendelian randomization analysis

artículo científico publicado en 2017

Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies

artículo científico publicado en 2005

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 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 in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation

article

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network

artículo científico publicado en 2020

Cancer genetics services in Europe

artículo científico publicado en 1999

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 risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

artículo científico publicado en 2013

Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Cis-eQTL analysis and functional validation of candidate susceptibility genes for high-grade serous ovarian cancer

artículo científico publicado en 2015

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.

artículo científico publicado en 2018

Combining evidence for and against pathogenicity for variants in cancer susceptibility genes: CanVIG-UK consensus recommendations

scientific article published on 18 November 2020

Common Genetic Variation In Cellular Transport Genes and Epithelial Ovarian Cancer (EOC) Risk

artículo científico publicado en 2015

Common Genetic Variation in Circadian Rhythm Genes and Risk of Epithelial Ovarian Cancer (EOC).

artículo científico publicado en 2015

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 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 susceptibility loci are associated with triple-negative breast cancer

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 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 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 at the CHEK2 gene locus and risk of epithelial ovarian cancer

artículo científico publicado en 2015

Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 05 August 2009

Comparative PRKAR1A genotype-phenotype analyses in humans with Carney complex and prkar1a haploinsufficient mice

scholarly article

Composite likelihood-based meta-analysis of breast cancer association studies.

artículo científico publicado en 2011

Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk

artículo científico publicado en 2014

Critical research gaps and translational priorities for the successful prevention and treatment of breast cancer

artículo científico publicado en 2013

Crowdsourcing the General Public for Large Scale Molecular Pathology Studies in Cancer

artículo científico publicado en 2015

Current Policies for Surveillance and Management in Women at Risk for Breast and Ovarian Cancer: A Survey among 16 European Family Cancer Clinics

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

DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

Deep sequencing reveals the mitochondrial DNA variation landscapes of breast-to-brain metastasis blood samples

artículo científico publicado en 2017

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

artículo científico publicado en 2010

Development of Breast Cancer Choices: a decision support tool for young women with breast cancer deciding whether to have genetic testing for BRCA1/2 mutations

artículo científico publicado en 2018

Development of genetic testing for breast, ovarian and colorectal cancer predisposition: a step closer to targeted cancer prevention.

artículo científico publicado en 2011

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

artículo científico publicado en 2004

E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium.

artículo científico publicado en 2018

Economic and Practical Factors in Diagnosing HNPCC Using Clinical Criteria, Immunohistochemistry and Microsatellite Instability Analysis

artículo científico publicado en 2004

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

Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers

artículo científico publicado en 2012

Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci

artículo científico publicado en 2017

Epigenetic analysis leads to identification of HNF1B as a subtype-specific susceptibility gene for ovarian cancer

artículo científico publicado en 2013

Epithelial-Mesenchymal Transition (EMT) Gene Variants and Epithelial Ovarian Cancer (EOC) Risk

artículo científico publicado en 2015

Establishing pathogenicity of germline mismatch repair gene mutations: A Bayesian model

article

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

Ethnicity and outcome of young breast cancer patients in the United Kingdom: the POSH study

artículo científico publicado en 2013

Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study

artículo científico publicado en 2014

Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2017

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 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 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 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

Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome

scientific article published on 01 November 1997

Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids

artículo científico publicado en 2011

Familial breast cancer: an investigation into the outcome of treatment for early stage disease

scientific article published on 01 January 2001

Familial non-BRCA1/BRCA2-associated breast cancer

artículo científico publicado en 2005

Fibroadenoma with atypical giant cells occurring in Li Fraumeni Syndrome.

artículo científico publicado en 2001

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 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

Functional annotation of the 2q35 breast cancer risk locus implicates a structural variant in influencing activity of a long-range enhancer element

artículo científico publicado en 2021

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

artículo científico publicado en 2003

GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer

artículo científico publicado en 2013

Gene-gene interactions in breast cancer susceptibility

artículo científico publicado en 2011

Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes

artículo científico publicado en 2016

Genetic Data from Nearly 63,000 Women of European Descent Predicts DNA Methylation Biomarkers and Epithelial Ovarian Cancer Risk

artículo científico publicado en 2018

Genetic testing for BRCA1 mutation in the UK.

artículo científico publicado en 2003

Genetic testing for breast cancer predisposition in 1999: which molecular strategy and which family criteria?

artículo científico publicado en 1999

Genetic testing for young women with breast cancer – Authors' reply

artículo científico publicado en 2018

Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade

artículo científico publicado en 2014

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types

artículo científico publicado en 2016

Genome-wide Analysis Identifies Novel Loci Associated with Ovarian Cancer Outcomes: Findings from the Ovarian Cancer Association Consortium

artículo científico publicado en 2015

Genome-wide association analysis identifies three new breast cancer susceptibility loci

artículo científico publicado en 2012

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer

article

Genome-wide association of breast cancer: composite likelihood with imputed genotypes

artículo científico publicado en 2010

Genome-wide association studies identify four ER negative-specific breast cancer risk loci

artículo científico publicado en 2013

Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer

artículo científico publicado en 2013

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

Genome-wide association study of subtype-specific epithelial ovarian cancer risk alleles using pooled DNA.

artículo científico publicado en 2013

Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study ⬇️

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 RAD51C mutations confer susceptibility to ovarian cancer

Germline mutations in RAD51D confer susceptibility to ovarian cancer

artículo científico publicado en 2011

Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women

artículo científico publicado en 2017

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

Hereditary Breast and Ovarian Cancer Testing in the Genomic Era

artículo científico publicado en 2019

Hereditary cancer: guidelines in clinical practice. Breast and ovarian cancer genetics.

artículo científico publicado en 2004

High-grade ER-negative tumour breast cancers are characteristic of both very young onset cases and patients with hereditary breast cancer.

artículo científico publicado en 2006

High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium

artículo científico publicado en 2016

IPOS 9th World Congress Abstracts

article

Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.

artículo científico publicado en 2013

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer

artículo científico publicado en 2017

Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

artículo científico publicado en 2016

Identification of inherited genetic variations influencing prognosis in early-onset breast cancer

scientific journal article

Identification of novel genetic markers of breast cancer survival

artículo científico publicado en 2015

Identification of personal risk of breast cancer: genetics

artículo científico publicado en 2008

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

artículo científico publicado en 2015

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

artículo científico publicado en 2017

Improved Prediction of Endoxifen Metabolism by CYP2D6 Genotype in Breast Cancer Patients Treated with Tamoxifen

artículo científico publicado en 2017

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

artículo científico publicado en 2022

Increased circulating resistin levels in early-onset breast cancer patients of normal body mass index correlate with lymph node negative involvement and longer disease free survival: a multi-center POSH cohort serum proteomics study.

artículo científico publicado en 2018

Increased colorectal cancer incidence in obligate carriers of heterozygous mutations in MUTYH.

artículo científico publicado en 2009

Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers

artículo científico publicado en 2006

Information required for surgical decision making in young women with breast cancer

Information requirements of young women with breast cancer treated with mastectomy or breast conserving surgery: A systematic review

artículo científico publicado en 2015

Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer

artículo científico publicado en 2014

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

Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration

artículo científico publicado en 2016

Insurance implications for individuals with a high risk of breast and ovarian cancer in Europe

artículo científico publicado en 1999

Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

artículo científico publicado en 2011

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

artículo científico publicado en 2019

Large-scale evaluation of common variation in regulatory T cell-related genes and ovarian cancer outcome

artículo científico publicado en 2014

Late toxicity is not increased in BRCA1/BRCA2 mutation carriers undergoing breast radiotherapy in the United Kingdom.

artículo científico publicado en 2006

Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer.

artículo científico publicado en 1999

Local Recurrence and Breast Oncological Surgery in Young Women With Breast Cancer: The POSH Observational Cohort Study

artículo científico publicado en 2016

Long-term effect of resistant starch on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial

article

Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas

artículo científico publicado en 2017

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas

artículo científico publicado en 2013

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

MYH polyposis: A new autosomal recessive form of familial adenomatous polyposis due to defective base excision repair-reappraisal of genetic risk and family management

Machine learning approaches for the discovery of gene-gene interactions in disease data

artículo científico publicado en 2013

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

Mendelian randomisation study of smoking exposure in relation to breast cancer risk

artículo científico publicado en 2021

Meta-analysis of three genome-wide association studies identifies two loci that predict survival and treatment outcome in breast cancer

artículo científico publicado en 2017

Methylenetetrahydrofolate reductase polymorphism and susceptibility to breast cancer

artículo científico publicado en 2002

Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer

artículo científico publicado en 2013

Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

artículo científico publicado en 2013

Mutation and association analysis of GEN1 in breast cancer susceptibility

artículo científico publicado en 2010

Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population

artículo científico publicado en 2005

Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.

artículo científico publicado en 1998

Network-Based Integration of GWAS and Gene Expression Identifies a HOX-Centric Network Associated with Serous Ovarian Cancer Risk

artículo científico publicado en 2015

Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.

artículo científico publicado en 2009

No Evidence That Genetic Variation in the Myeloid-Derived Suppressor Cell Pathway Influences Ovarian Cancer Survival

artículo científico publicado en 2016

No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.

artículo científico publicado en 2015

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

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

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

Observer agreement comparing the use of virtual slides with glass slides in the pathology review component of the POSH breast cancer cohort study

artículo científico

Optimal Selection of Individuals for BRCA Mutation Testing

artículo científico publicado en 2006

Oral Presentations

Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

artículo científico publicado en 2016

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

artículo científico publicado en 2007

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

Paucimorphic Alleles versus Polymorphic Alleles and Rare Mutations in Disease Causation: Theory, Observation and Detection

Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

artículo científico publicado en 2019

Polymorphism at 19q13.41 Predicts Breast Cancer Survival Specifically after Endocrine Therapy

artículo científico publicado en 2015

Polymorphisms in stromal genes and susceptibility to serous epithelial ovarian cancer: a report from the Ovarian Cancer Association Consortium

artículo científico publicado en 2011

Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics

artículo científico publicado en 2008

Prediction and clinical utility of a contralateral breast cancer risk model

scientific article published on 17 December 2019

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 breast cancer risk based on profiling with common genetic variants

artículo científico publicado en 2015

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

artículo científico publicado en 2011

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

Pregnancies, breast-feeding, and breast cancer risk in the International BRCA1/2 Carrier Cohort Study (IBCCS)

artículo científico publicado en 2006

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.

scientific article published on July 2008

Primary fibroblasts from BRCA1 heterozygotes display an abnormal G1/S cell cycle checkpoint following UVA irradiation but show normal levels of micronuclei following oxidative stress or mitomycin C treatment

artículo científico publicado en 2004

Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups

artículo científico publicado en 2016

Prospective Study of Outcome in Sporadic versus Hereditary Breast Cancer: pros and cons of running a cohort study.

artículo científico publicado en 2008

Prospective observational study of breast cancer treatment outcomes for UK women aged 18-40 years at diagnosis: the POSH study

artículo científico publicado en 2013

Prospective study of Outcomes in Sporadic versus Hereditary breast cancer (POSH): study protocol

artículo científico publicado en 2007

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

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 impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations

artículo científico publicado en 2018

Publisher Correction: Shared heritability and functional enrichment across six solid cancers

scientific article published on 23 September 2019

Quantifying the cumulative effect of low-penetrance genetic variants on breast cancer risk

artículo científico publicado en 2015

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

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

artículo científico publicado en 2004

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

Renewed: Protocol for a randomised controlled trial of a digital intervention to support quality of life in cancer survivors

article

Response: Table 1

article by Amanda B. Spurdle et al published 31 August 2016 in Journal of the National Cancer Institute

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

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 colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

artículo científico publicado en 2010

Risk of ovarian cancer and the NF-κB pathway: genetic association with IL1A and TNFSF10

artículo científico publicado en 2013

Risk reducing mastectomy: outcomes in 10 European centres.

artículo científico publicado en 2008

Risks of breast or ovarian cancer in BRCA1 or BRCA2 predictive test negatives: findings from the EMBRACE study.

artículo científico publicado en 2018

Role of Engrailed-2 (EN2) as a prostate cancer detection biomarker in genetically high risk men.

artículo científico publicado en 2013

Screening SMAD1, SMAD2, SMAD3, and SMAD5 for germline mutations in juvenile polyposis syndrome

artículo científico publicado en 1999

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

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

artículo científico publicado en 2008

Shared genetics underlying epidemiological association between endometriosis and ovarian cancer

artículo científico publicado en 2015

Shared heritability and functional enrichment across six solid cancers

artículo científico publicado en 2019

Shared heritability and functional enrichment across six solid cancers

Skin spots and heart tumors

artículo científico publicado en 2001

Stratified cancer screening: the practicalities of implementation

artículo científico

Support Vector Machine classifier for estrogen receptor positive and negative early-onset breast cancer.

artículo científico publicado en 2013

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

Tamoxifen metabolism predicts drug concentrations and outcome in premenopausal patients with early breast cancer

artículo científico publicado en 2014

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 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

artículo científico publicado en 2017

The DNMT3B C-->T promoter polymorphism and risk of breast cancer in a British population: a case-control study

artículo científico publicado en 2004

The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

scientific article published on 01 November 2019

The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With or Mutations

The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers.

artículo científico publicado en 2018

The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients

artículo científico publicado en 2015

The influence of common polymorphisms on breast cancer

artículo científico publicado en 2010

The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer

artículo científico publicado en 2008

The presentation, management and outcome of inflammatory breast cancer cases in the UK: Data from a multi-centre retrospective review

artículo científico publicado en 2018

The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing

artículo científico publicado en 2011

Therapeutic targeting of integrin αvβ6 in breast cancer

artículo científico publicado en 2014

Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report

artículo científico publicado en 2019

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status

artículo científico publicado en 2020

Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing

article

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

article

Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance.

artículo científico publicado en 2008

Tumor necrosis factor and its receptors in human ovarian cancer. Potential role in disease progression

artículo científico publicado en 1993

Two truncating variants in FANCC and breast cancer risk

artículo científico publicado en 2019

Utilisation of prophylactic mastectomy in 10 European centres

artículo científico publicado en 1999

Validating “Image box”-a new approach to multicentre radiology reviews using a web-based image review system: study protocol

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility

artículo científico publicado en 2003

Variants in genes encoding small GTPases and association with epithelial ovarian cancer susceptibility

artículo científico publicado en 2018

Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation

artículo científico publicado en 2020

Variation in NF-κB signaling pathways and survival in invasive epithelial ovarian cancer

artículo científico publicado en 2014

rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology

artículo científico publicado en 2018

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda