Lista de obras - William D Foulkes - Dominio Público Uruguay

65 YEARS OF THE DOUBLE HELIX: Endocrine tumour syndromes in children and adolescents

artículo científico publicado en 2018

65 YEARS OF THE DOUBLE HELIX: It's all in the DNA: understanding and managing endocrine neoplasms

artículo científico publicado en 2018

A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.

artículo científico publicado en 2017

A Comprehensive Analysis ofMNG1,TCO1,fPTC,PTEN,TSHR, and TRKA in Familial Nonmedullary Thyroid Cancer: Confirmation of Linkage to TCO1

article

A PALB2 mutation associated with high risk of breast cancer

artículo científico publicado en 2010

A basal epithelial phenotype is more frequent in interval breast cancers compared with screen detected tumors

artículo científico publicado en 2005

A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis

artículo científico publicado en 2009

A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?

artículo científico publicado en 2017

A child with neuroblastoma and metachronous anaplastic sarcoma of the kidney: Underlying DICER1 syndrome?

scientific article published on 22 June 2020

A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment

artículo científico publicado en 2004

A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics

artículo científico publicado en 2005

A comparison of bilateral breast cancers in BRCA carriers

artículo científico publicado en 2005

A comparison of models used to predict MLH1, MSH2 and MSH6 mutation carriers

artículo científico publicado en 2009

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

scientific article published on 18 November 2020

A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa

artículo científico publicado en 2011

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

artículo científico publicado en 2021

A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays.

artículo científico publicado en 2010

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

artículo científico publicado en 2015

A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening

artículo científico publicado en 1999

A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening.

artículo científico publicado en 1999

A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer

artículo científico publicado en 2017

A novel DICER 1 mutation in familial multinodular goitre.

artículo científico publicado en 2018

A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1.

artículo científico publicado en 1994

A preclinical trial and molecularly-annotated patient cohort identify predictive biomarkers in homologous recombination deficient pancreatic cancer

scientific article published on 14 August 2020

A prior diagnosis of breast cancer is a risk factor for breast cancer in BRCA1 and BRCA2 carriers

artículo científico publicado en 2014

A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes

article

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

scientific article published on 06 March 2019

A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer

artículo científico publicado en 2002

A somatic BRCA1 mutation in an ovarian tumour

artículo científico publicado en 1995

A survey of APC mutations in Quebec.

artículo científico publicado en 2011

A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome

artículo científico publicado en 1995

A whole-genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor-negative and -positive breast cancers

artículo científico publicado en 2012

A636P is associated with early-onset colon cancer in Ashkenazi Jews.

artículo científico publicado en 2003

ALMNASplicing Mutation in Two Sisters with Severe Dunnigan-Type Familial Partial Lipodystrophy Type 2

article

ATYPICAL TERATOID RHABDOID TUMOUR

Adult-Onset Cervical Embryonal Rhabdomyosarcoma and DICER1 Mutations.

artículo científico publicado en 2016

Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

article

Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article published on 17 May 2018

Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

article

Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation

scientific article published on 21 May 2018

Alcohol consumption and the risk of breast cancer among BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2010

Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19p13.3) in sporadic ovarian tumours.

artículo científico publicado en 1999

Allele loss on chromosome 17q in sporadic ovarian cancer

artículo científico publicado en 1991

An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1

artículo científico publicado en 2002

An absence of founderBRCA2 mutations in individuals with squamous cell carcinoma of the head and neck

article

An assessment of the shared allelic architecture between type II diabetes and prostate cancer

artículo científico publicado en 2013

An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor

scientific article published on 30 July 2019

An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling

artículo científico publicado en 2000

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 ovarian tumor marker with homology to vaccinia virus contains an IgV-like region and multiple transmembrane domains

artículo científico publicado en 1992

An update on the central nervous system manifestations of DICER1 syndrome

artículo científico publicado en 2019

Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.

artículo científico publicado en 2018

Analysis of PALB2/FANCN-associated breast cancer families

artículo científico publicado en 2007

Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families

artículo científico publicado en 2012

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer

scientific article published on 25 July 2009

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer

scientific article published on May 2008

Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.

artículo científico publicado en 2008

Anaplastic sarcomas of the kidney are characterized by DICER1 mutations

artículo científico

Anthropometric Measures and Risk of Ovarian Cancer Among BRCA1 and BRCA2 Mutation Carriers

article

Antral Helicobacter pylori, hypergastrinaemia, and duodenal ulcers: effect of eradicating the organism

artículo científico publicado en 1989

Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent

artículo científico publicado en 2006

Are triple-negative tumours and basal-like breast cancer synonymous?

artículo científico publicado en 2007

Are we there yet?

scientific article published on 03 May 2010

Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease

artículo científico publicado en 2013

Association between polymorphisms of the GPX1 gene and second primary tumours after index squamous cell cancer of the head and neck

artículo científico publicado en 2005

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

Atypical Tuberous Sclerosis Complex presenting as familial renal cell carcinoma with leiomyomatous stroma.

artículo científico publicado en 2018

Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases

artículo científico publicado en 2020

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

scientific article published on 01 January 2019

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

artículo científico publicado en 2018

BRCA Mutations and Ductal Carcinoma In SituBRCA

artículo científico publicado en 2005

BRCA mutations and survival in breast cancer

artículo científico publicado en 1998

BRCA testing in women with high-grade serous ovarian cancer: gynecologic oncologist-initiated testing compared with genetics referral

artículo científico publicado en 2020

BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective

artículo científico

BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry

artículo científico publicado en 2019

BRCA1 and BRCA2 families and the risk of skin cancer

artículo científico publicado en 2010

BRCA1 and BRCA2: 1994 and beyond

artículo científico publicado en 2004

BRCA1 and BRCA2: chemosensitivity, treatment outcomes and prognosis

artículo científico publicado en 2006

BRCA1 and BRCA2: penetrating the clinical arena.

artículo científico publicado en 1998

BRCA1 functions as a breast stem cell regulator

artículo científico publicado en 2004

BRCA1 mutations and survival in women with ovarian cancer.

artículo científico publicado en 1997

BRCA1 mutations contribute to cell motility and invasion by affecting its main regulators.

artículo científico publicado en 2008

BRCA1:185delAG found in the San Luis Valley probably originated in a Jewish founder

artículo científico publicado en 2005

BRCA1—sowing the seeds crooked in the furrow

article

BRCA2: a grown-up cancer susceptibility gene.

artículo científico publicado en 2016

BRCA2: breaks, mistakes and failed separations

artículo científico publicado en 2005

Biallelic DICER1 mutations occur in Wilms tumours.

artículo científico publicado en 2013

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

article

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer

artículo científico publicado en 2012

Biallelic somatic SMARCA4 mutations in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT).

artículo científico publicado en 2014

Bilateral Oophorectomy and Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2016

Bilateral Tumors - Inherited or Acquired?

artículo científico publicado en 2020

Book Review: A Guide to Cancer Genetics in Clinical Practice, edited by Sue Clark

article

Breast cancer genetics

artículo científico publicado en 1997

Breast cancer in systemic lupus

artículo científico publicado en 2016

Breast cancer in systemic lupus erythematosus

artículo científico publicado en 2013

Breast cancer in systemic lupus erythematosus (SLE): receptor status and treatment

artículo científico publicado en 2017

Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study.

artículo científico publicado en 2005

Breast cancer risk in women with PALB2 mutations in different populations

scientific article published on 01 August 2015

Breast cancer, desmoid tumours, and familial adenomatous polyposis.

artículo científico publicado en 1993

Breast, ovarian, and endometrial malignancies in systemic lupus erythematosus: a meta-analysis

artículo científico publicado en 2011

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-Cancer Risk in Families with Mutations in PALB2

artículo científico publicado en 2014

Breast-cancer risk in families with mutations in PALB2

artículo científico publicado en 2014

Breast-feeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.

artículo científico publicado en 2004

Breastfeeding and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation

scientific article published on 30 September 2020

CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy

artículo científico publicado en 2014

CCR 20th Anniversary Commentary: Triple-Negative Breast Cancer in 2015—Still in the Ballpark.

artículo científico publicado en 2015

CD8+ lymphocyte infiltration is an independent favorable prognostic indicator in basal-like breast cancer

artículo científico publicado en 2012

CDK4/6 inhibitors target SMARCA4-determined cyclin D1 deficiency in hypercalcemic small cell carcinoma of the ovary

artículo científico publicado en 2019

CDKN2A mutation in a non-FAMMM kindred with cancers at multiple sites results in a functionally abnormal protein

article

Cancer Immunoprevention: A Case Report Raising the Possibility of "Immuno-interception"

scientific article published on 01 April 2020

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 Surveillance in Gorlin Syndrome and Rhabdoid Tumor Predisposition Syndrome

artículo científico publicado en 2017

Cancer genetics-one family at a time

artículo científico publicado en 2019

Cancer risks in BRCA2 mutation carriers

artículo científico publicado en 1999

Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer

artículo científico publicado en 2015

Case 35-2018: A Woman with Back Pain and a Remote History of Breast Cancer

artículo científico publicado en 2019

Challenges to cancer control by screening

artículo científico publicado en 2003

Change in the penetrance of founder BRCA1/2 mutations? A retrospective cohort study

artículo científico publicado en 2002

Changes in body weight and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2005

Characterization of a novel founderMSH6mutation causing Lynch syndrome in the French Canadian population

article

Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome

artículo científico publicado en 2010

Chromosomes 4 and 8 implicated in a genome wide SNP linkage scan of 762 prostate cancer families collected by the ICPCG

artículo científico publicado en 2011

ClinGen and Genetic Testing

artículo científico publicado en 2015

Clinical Outcomes and Complications of Pituitary Blastoma

artículo científico publicado en 2020

Clinical and Molecular Characteristics May Alter Treatment Strategies of Thyroid Malignancies in DICER1 Syndrome

scientific article published on 01 February 2019

Clinical and genetic findings in an Ashkenazi Jewish population with colorectal neoplasms

artículo científico publicado en 2005

Clinical follow-up and breast and ovarian cancer screening of true BRCA1/2 noncarriers: a qualitative investigation

article by Sylvie Pelletier et al published June 2016 in Genetics in Medicine

Clinical implications of next-generation sequencing for cancer medicine.

artículo científico publicado en 2010

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

artículo científico publicado en 2018

Clinical, morphological and immunohistochemical evidence that small-cell carcinoma of the ovary of hypercalcaemic type (SCCOHT) may be a primitive germ-cell neoplasm.

artículo científico publicado en 2017

Clinically relevant biology of hereditary breast cancer

artículo científico publicado en 2007

Clinico-pathological characteristics of BRCA1- and BRCA2-related breast cancer.

artículo científico publicado en 2000

Co-amplification of CCND1 and EMSY is associated with an adverse outcome in ER-positive tamoxifen-treated breast cancers.

artículo científico publicado en 2009

Coffee consumption and breast cancer risk amongBRCA1 andBRCA2 mutation carriers

article

Cognitive markers of dementia risk in middle-aged women with bilateral salpingo-oophorectomy prior to menopause

scientific article published on 29 April 2020

Colonic or coelomic?

artículo científico publicado en 2010

Colorectal Adenomas.

artículo científico publicado en 2016

Compelling evidence for a prostate cancer gene at 22q12.3 by the International Consortium for Prostate Cancer Genetics

artículo científico publicado en 2007

Constitutional alterations of the ATM gene in early onset sporadic breast cancer

artículo científico publicado en 2002

Contralateral breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2004

Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis

artículo científico publicado en 2014

Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent

artículo científico publicado en 2013

Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment

artículo científico publicado en 2023

Corrigendum: Germline RECQL mutations are associated with breast cancer susceptibility

artículo científico publicado en 2016

Cultural aspects of healthy BRCA carriers from two ethnocultural groups

artículo científico publicado en 2014

Cutaneous malignant melanoma in women is uncommonly associated with a family history of melanoma in first-degree relatives: a case-control study

Cyclin D1 is essential for neoplastic transformation induced by both E6/E7 and E6/E7/ErbB-2 cooperation in normal cells

artículo científico publicado en 2004

Cyclin E expression in breast cancer: predicting germline BRCA1 mutations, prognosis and response to treatment

artículo científico publicado en 2005

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

scientific article published on 01 March 2020

DICER1 Mutations Are Consistently Present in Moderately and Poorly Differentiated Sertoli-Leydig Cell Tumors.

artículo científico publicado en 2017

DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma

artículo científico publicado en 2018

DICER1 gene mutations in endocrine tumors

artículo científico publicado en 2018

DICER1 hotspot mutations in non-epithelial gonadal tumours

artículo científico publicado en 2013

DICER1 hotspot mutations in non-epithelial gonadal tumours.

artículo científico publicado en 2013

DICER1 mutations in an adolescent with cervical embryonal rhabdomyosarcoma (cERMS).

artículo científico publicado en 2013

DICER1 mutations in familial multinodular goiter with and without ovarian Sertoli-Leydig cell tumors

artículo científico publicado en 2011

DICER1 screening in 15 paediatric paratesticular sarcomas unveils an unusual DICER1-associated sarcoma

scientific article published on 28 March 2020

DICER1-Associated Embryonal Rhabdomyosarcoma and Adenosarcoma of the Gynecologic Tract: Pathology, Molecular Genetics and Indications for Molecular Testing

artículo científico publicado en 2020

DICER1-associated central nervous system sarcoma in children: comprehensive clinicopathologic and genetic analysis of a newly described rare tumor

artículo científico publicado en 2020

DICER1-associated sarcomas: towards a unified nomenclature

artículo científico publicado en 2020

DICER1: mutations, microRNAs and mechanisms

artículo científico

Decreased breast cancer risk in systemic lupus erythematosus: the search for a genetic basis continues

artículo científico publicado en 2012

Deep Sequencing Reveals Spatially Distributed Distinct Hot Spot Mutations in DICER1-Related Multinodular Goiter

artículo científico publicado en 2016

Deletion of Yy1 in mouse lung epithelium unveils molecular mechanisms governing pleuropulmonary blastoma pathogenesis

artículo científico publicado en 2020

Detection of prostate cancer. Recent evidence suggests screening may be justified in high risk younger men.

artículo científico publicado en 1995

Diabetes and breast cancer among women with BRCA1 and BRCA2 mutations

artículo científico publicado en 2010

Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family

artículo científico publicado en 2006

Disruption of the expected positive correlation between breast tumor size and lymph node status in BRCA1-related breast carcinoma

artículo científico publicado en 2003

Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)

article

Does preventive oophorectomy increase the risk of depression in BRCA mutation carriers?

artículo científico publicado en 2020

Does the age of breast cancer diagnosis in first-degree relatives impact on the risk of breast cancer in BRCA1 and BRCA2 mutation carriers?

artículo científico publicado en 2015

Double frameshift mutations in APC and MSH2 in the same individual

artículo científico publicado en 2005

Double frameshift mutations in APC and MSH2 in the same individual.

artículo científico publicado en 2006

Double primary cancers of the breast and thyroid in women: molecular analysis and genetic implications

article

Duration of tamoxifen use and the risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2014

E6/E7 of HPV type 16 promotes cell invasion and metastasis of human breast cancer cells

artículo científico publicado en 2007

E6/E7 proteins of HPV type 16 and ErbB-2 cooperate to induce neoplastic transformation of primary normal oral epithelial cells

artículo científico publicado en 2004

Effect of Oophorectomy on Survival After Breast Cancer in BRCA1 and BRCA2 Mutation Carriers

artículo científico

Effect of Prior Bilateral Oophorectomy on the Presentation of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers

artículo científico publicado en 2005

Effect of Smoking on Breast Cancer in Carriers of Mutant BRCA1 or BRCA2 Genes

article

Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers

artículo científico publicado en 2005

Eleven years disease-free: role of chemotherapy in metastatic BRCA2-related breast cancer

artículo científico publicado en 2009

Embryonal Rhabdomyosarcoma of the Ovary and Fallopian Tube: Rare Neoplasms Associated With Germline and Somatic DICER1 Mutations

artículo científico publicado en 2020

Epigenetic modification and cancer: mark or stamp?

artículo científico publicado en 2012

Epithelial inactivation of Yy1 abrogates lung branching morphogenesis

artículo científico publicado en 2015

Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers

scientific article published on 19 November 2019

Establishing a clinic-based pancreatic cancer and periampullary tumour research registry in Quebec

artículo científico publicado en 2015

Estrogen receptor status in BRCA1- and BRCA2-related breast cancer: the influence of age, grade, and histological type

artículo científico publicado en 2004

Etiologic Index - A Case-Only Measure of BRCA1/2-Associated Cancer Risk

artículo científico publicado en 2020

Evaluation of molecular analysis in challenging ovarian sex cord-stromal tumours: a review of 50 cases

artículo científico publicado en 2020

Evidence for susceptibility genes to familial Wilms tumour in addition to WT1, FWT1 and FWT2

artículo científico publicado en 2000

Evolution of Renal Cysts to Anaplastic Sarcoma of Kidney in a Child With DICER1 Syndrome.

artículo científico publicado en 2016

Excess of congenital abnormalities in French-Canadian children with neuroblastoma: a case series study from Montréal.

artículo científico publicado en 1997

Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer

scientific article published on 18 October 2019

Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient

artículo científico publicado en 2013

Expanding the morphological spectrum of ovarian microcystic stromal tumour

article

Exploring the association Between DICER1 mutations and differentiated thyroid carcinoma.

artículo científico publicado en 2014

Exploring the endocrine manifestations of DICER1 mutations.

artículo científico publicado en 2012

Expression of Nestin associates with BRCA1 mutations, a basal-like phenotype and aggressive breast cancer

artículo científico publicado en 2017

Expression of epidermal growth factor receptor in relation to BRCA1 status, basal-like markers and prognosis in breast cancer

artículo científico publicado en 2008

Extending the phenotypes associated with DICER1 mutations.

artículo científico publicado en 2011

Extensive DNA methylation in normal colorectal mucosa in hyperplastic polyposis.

artículo científico publicado en 2006

Fallopian tube cancer in a BRCA1 mutation carrier: Rapid development and failure of screening

article

False family history of breast cancer in the family cancer clinic

article

Familial Adenomatous Polyposis

article

Familial Prostate and Breast Cancer in Men Treated with Prostatectomy for Prostate Cancer: A Population based Case-Control Study

scientific article published on 01 January 2003

Familial clustering of parotid gland lymphoepithelioma in North America

artículo científico publicado en 2008

Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET.

artículo científico publicado en 2001

Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame DICER1 deletion.

artículo científico publicado en 2017

Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer

artículo científico publicado en 1997

Familial prostate cancer: the damage done and lessons learnt

artículo científico publicado en 2013

Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again

artículo científico

Familial risks of squamous cell carcinoma of the head and neck: retrospective case-control study

artículo científico publicado en 1996

Family History of Cancer and Cancer Risks in Women with BRCA1 or BRCA2 Mutations

article by K. Metcalfe et al published 23 November 2010 in Journal of the National Cancer Institute

Family history and risk of ovarian cancer

artículo científico publicado en 1995

Family history as a predictor of uptake of cancer preventive procedures by women with a BRCA1 or BRCA2 mutation

artículo científico publicado en 2008

Family history of cancer is a risk factor for squamous cell carcinoma of the head and neck in Brazil: a case-control study

artículo científico publicado en 1995

Family with Graves disease, multinodular goiter, nonmedullary thyroid carcinoma, and alveolar rhabdomyosarcoma

article

Family with Graves disease, multinodular goiter, nonmedullary thyroid carcinoma, and alveolar rhabdomyosarcoma

artículo científico publicado en 1997

Fertility in women with BRCA mutations: a case-control study

artículo científico publicado en 2009

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

Folate-binding protein is a marker for ovarian cancer

artículo científico publicado en 1991

Forth nightly review: hereditary ovarian carcinoma

artículo científico publicado en 1999

Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families

artículo científico publicado en 1998

Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls

scientific article published on 16 April 2020

Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancer

artículo científico publicado en 2003

FounderBRCA1 andBRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history

article

Frequency of premature menopause in women who carry a BRCA1 or BRCA2 mutation

article

Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families

artículo científico publicado en 1996

Frequency of the CHEK2 1100delC mutation among women with breast cancer: an international study.

artículo científico publicado en 2008

Frequent loss of heterozygosity on chromosome 6 in human ovarian carcinoma

artículo científico publicado en 1993

Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue

artículo científico publicado en 2019

Functional characterization of multiple DICER1 mutations in an adolescent.

artículo científico publicado en 2015

Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus

artículo científico publicado en 2016

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant

artículo científico publicado en 2009

Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma

artículo científico publicado en 2017

Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome

artículo científico publicado en 2019

GATA2 Deficiency Due to de Novo Complete Monoallelic Deletion in an Adolescent With Myelodysplasia

artículo científico publicado en 2018

Gene-panel sequencing and the prediction of breast-cancer risk

artículo científico publicado en 2015

Genetic Screening for Breast Cancer

artículo científico publicado en 1996

Genetic architecture of prostate cancer in the Ashkenazi Jewish population

artículo científico publicado en 2011

Genetic counseling and interpretation of genetic tests in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer

artículo científico publicado en 2001

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

artículo científico publicado en 2008

Genetic implications of double primary cancers of the colorectum and endometrium

artículo científico publicado en 1998

Genetic mechanisms in squamous cell carcinoma of the head and neck

artículo científico publicado en 2001

Genetics meets pathology - an increasingly important relationship ⬇️

artículo científico publicado en 2016

Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant

article

Genome-wide linkage analysis of 1,233 prostate cancer pedigrees from the International Consortium for Prostate Cancer Genetics using novel sumLINK and sumLOD analyses

artículo científico publicado en 2010

Germ-line BRCA1 mutation is an adverse prognostic factor in Ashkenazi Jewish women with breast cancer.

artículo científico publicado en 1997

Germ-line DICER1 mutations do not make a major contribution to the etiology of familial testicular germ cell tumours

artículo científico publicado en 2013

Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma

artículo científico publicado en 2013

Germ-line and somatic DICER1 mutations in pineoblastoma

artículo científico publicado en 2014

Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides

artículo científico publicado en 2013

Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer

artículo científico publicado en 2003

Germline BRCA1/2 mutations and p27(Kip1) protein levels independently predict outcome after breast cancer.

artículo científico publicado en 2000

Germline DICER1 mutation and associated loss of heterozygosity in a pineoblastoma

artículo científico publicado en 2012

Germline DICER1 mutations and familial cystic nephroma.

artículo científico publicado en 2010

Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria

artículo científico publicado en 2004

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

artículo científico publicado en 2018

Germline PALB2 mutation analysis in breast-pancreas cancer families

article

Germline RECQL mutations are associated with breast cancer susceptibility

artículo científico publicado en 2015

Germline TP53 mutational spectrum in French Canadians with breast cancer

artículo científico publicado en 2015

Germline TP53 mutations in BRCA1 and BRCA2 mutation-negative French Canadian breast cancer families

article

Germline and Somatic DICER1 Mutations in a Well-Differentiated Fetal Adenocarcinoma of the Lung

artículo científico publicado en 2015

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

artículo científico publicado en 2016

Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

artículo científico publicado en 2014

Germline truncating mutations in both MSH2 and BRCA2 in a single kindred

artículo científico publicado en 2004

Glomeruloid microvascular proliferation is associated with p53 expression, germline BRCA1 mutations and an adverse outcome following breast cancer

artículo científico publicado en 2003

Gynecologic Manifestations of the DICER1 Syndrome

artículo científico publicado en 2016

HOXB13 is a susceptibility gene for prostate cancer: results from the International Consortium for Prostate Cancer Genetics (ICPCG).

artículo científico publicado en 2012

Haplotype Analysis of BRCA2 8765delAG Mutation Carriers in French Canadian and Yemenite Jewish Hereditary Breast Cancer Families

article

Haplotype analysis of a BRCA1 : 185delAG mutation in a Chilean family supports its Ashkenazi origins

article

Haplotype analysis of two recurrent CDKN2A mutations in 10 melanoma families: evidence for common founders and independent mutations

artículo científico publicado en 1998

Haplotype analysis of two recurrentCDKN2A mutations in 10 melanoma families: Evidence for common founders and independent mutations

article

Haplotype analysis suggest common founders in carriers of the recurrent BRCA2mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families

artículo científico publicado en 2006

Hereditary SWI/SNF complex deficiency syndromes

artículo científico publicado en 2018

Hereditary breast and ovarian cancer: epidemiology, genetics, screening and predictive testing.

artículo científico publicado en 1995

Hereditary breast cancer: new genetic developments, new therapeutic avenues

artículo científico publicado en 2008

Hereditary colorectal cancer registries in Canada: report from the Colorectal Cancer Association of Canada consensus meeting; Montreal, Quebec; October 28, 2011

artículo científico publicado en 2013

Hereditary leiomyomatosis and renal cell cancer syndrome

artículo científico publicado en 2015

Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma

artículo científico publicado en 2007

Hereditary ovarian cancer resulting from a non-ovarian cancer cluster region (OCCR) BRCA2 mutation: is the OCCR useful clinically?

artículo científico publicado en 2002

Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.

artículo científico publicado en 2013

Hi-Plex for high-throughput mutation screening: application to the breast cancer susceptibility gene PALB2

artículo científico publicado en 2013

High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families

artículo científico publicado en 2009

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

artículo científico publicado en 2015

Homologous recombination DNA repair defects in PALB2-associated breast cancers

scientific article published on 08 August 2019

Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.

artículo científico publicado en 2010

Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers

artículo científico publicado en 2018

Hormone replacement therapy after menopause and risk of breast cancer in BRCA1 mutation carriers: a case-control study

artículo científico publicado en 2016

How old is this mutation? - a study of three Ashkenazi Jewish founder mutations.

artículo científico publicado en 2010

Hyperplastic polyposis and cancer of the colon with gastrinoma of the duodenum

artículo científico publicado en 2006

I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer

artículo científico publicado en 1998

Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer

artículo científico publicado en 2008

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

artículo científico publicado en 2017

Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women

artículo científico publicado en 2008

Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women

artículo científico publicado en 2007

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

artículo científico publicado en 2016

Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines

artículo científico publicado en 2011

Identification of genes associated with head and neck carcinogenesis by cDNA microarray comparison between matched primary normal epithelial and squamous carcinoma cells.

artículo científico publicado en 2002

Identification of seven new prostate cancer susceptibility loci through a genome-wide association study

artículo científico publicado en 2009

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

artículo científico publicado en 2017

Imaging of DICER1 syndrome

scientific article published on 16 October 2019

Immunohistochemical Expression of DNA Repair Proteins in Familial Breast Cancer DifferentiateBRCA2-Associated Tumors

article

Impact of germline BRCA1 mutations and overexpression of p53 on prognosis and response to treatment following breast carcinoma: 10-year follow up data

artículo científico publicado en 2003

Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation

artículo científico publicado en 2014

Impaired RASGRF1/ERK-mediated GM-CSF response characterizes CARD9 deficiency in French-Canadians

artículo científico publicado en 2015

In Brief: Picturing the complex world of chromatin remodelling families

artículo científico

In brief: BRCA1 and BRCA2.

artículo científico

Incidence of colorectal cancer in BRCA1 and BRCA2 mutation carriers: results from a follow-up study

artículo científico publicado en 2013

Increased Risk for Nonmedullary Thyroid Cancer in the First Degree Relatives of Prevalent Cases of Nonmedullary Thyroid Cancer: A Hospital-Based Study

article

Increased incidence of cancer in first degree relatives of women with double primary carcinomas of the breast and colon

artículo científico publicado en 1996

Increased risk of head and neck cancer in association with GSTT1 nullizygosity for individuals with low exposure to tobacco

article

Increased risk of head and neck cancer in association with GSTT1 nullizygosity for individuals with low exposure to tobacco

artículo científico publicado en 2000

Infantile Pulmonary Teratoid Tumor

article

Infertility, treatment of infertility, and the risk of breast cancer among women with BRCA1 and BRCA2 mutations: a case-control study

artículo científico publicado en 2008

Influence of BRCA1 mutations on nuclear grade and estrogen receptor status of breast carcinoma in Ashkenazi Jewish women

scientific article published on 01 August 1997

Influenza A and rhabdomyolysis

article

Inherited mutations in breast cancer genes--risk and response

artículo científico publicado en 2011

Inherited susceptibility to common cancers

artículo científico publicado en 2008

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers

artículo científico publicado en 2019

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

artículo científico publicado en 2010

International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2008

Intrinsic breast tumor subtypes, race, and long-term survival in the Carolina Breast Cancer Study

artículo científico publicado en 2010

Introducing Countercurrents-a new feature of Current Oncology.

artículo científico publicado en 2011

Invasive breast cancer following bilateral subcutaneous mastectomy in a BRCA2 mutation carrier: a case report and review of the literature

artículo científico publicado en 2005

Is breast cancer the same disease in Asian and Western countries?

artículo científico publicado en 2010

Is hereditary site-specific ovarian cancer a distinct genetic condition?

artículo científico publicado en 1998

Is the E133K allele of VG5Q associated with Klippel-Trenaunay and other overgrowth syndromes?

artículo científico publicado en 2006

Is there a correlation between the structure of hair and breast cancer or BRCA1/2 mutations?

artículo científico publicado en 2002

LG-26GERMLINE AND SOMATIC FGFR1 ABNORMALITIES IN DYSEMBRYOPLASTIC NEUROEPITHELIAL TUMORS.

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Life insurance: genomic stratification and risk classification

artículo científico publicado en 2013

Linkage analysis of chromosome 1q markers in 136 prostate cancer families. The Cancer Research Campaign/British Prostate Group U.K. Familial Prostate Cancer Study Collaborators

artículo científico publicado en 1998

Localization of an ovarian cancer tumor suppressor gene to a 0.5-cM region between D22S284 and CYP2D, on chromosome 22q

article

Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes

artículo científico publicado en 2008

Loh and mutation analysis ofCDKN2 in primary human ovarian cancers

scientific article published on 01 October 1995

Long-term outcome after neo-adjuvant chemotherapy for breast cancer in BRCA1/2 carriers

article

Long-term outcome of invasive breast cancer

scientific article published in The Lancet

Long-term outcomes following a diagnosis of ovarian cancer at the time of preventive oophorectomy among BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2020

Loss of SMARCA4 (BRG1) protein expression as determined by immunohistochemistry in small-cell carcinoma of the ovary, hypercalcaemic type distinguishes these tumours from their mimics

artículo científico publicado en 2016

Loss of heterozygosity and amplification on chromosome 11q in human ovarian cancer

artículo científico publicado en 1993

Loss of heterozygosity on chromosome 22 in ovarian carcinoma is distal to and is not accompanied by mutations in NF2 at 22q12.

artículo científico publicado en 1994

Loss of heterozygosity on chromosome 5 in sporadic ovarian carcinoma is a late event and is not associated with mutations in APC at 5q21-22

article

Loss of human ICOSL results in combined immunodeficiency

artículo científico publicado en 2018

Low yield of gastroscopy in patients with Lynch syndrome

scientific article published on 25 October 2017

Lynch syndrome: five unanswered questions

artículo científico publicado en 2015

MDM2 overexpression is rare in ovarian carcinoma irrespective of TP53 mutation status.

artículo científico publicado en 1995

MSI-H colorectal cancers preferentially retain and expand intraepithelial lymphocytes rather than peripherally derived CD8+ T cells

artículo científico publicado en 2008

MSI-low, a real phenomenon which varies in frequency among cancer types.

artículo científico publicado en 2003

Macrofollicular Variant of Follicular Thyroid Carcinoma: A Rare Underappreciated Pitfall in the Diagnosis of Thyroid Carcinoma

scientific article published on 30 December 2019

Macrophage scavenger receptor 1 999C>T (R293X) mutation and risk of prostate cancer

artículo científico publicado en 2005

Made-to-measure medicine: BRCA and gynaecological cancer

artículo científico publicado en 2014

Male and female castration

artículo científico publicado en 1994

Malignant teratoid tumor of the thyroid gland: an aggressive primitive multiphenotypic malignancy showing organotypical elements and frequent DICER1 alterations-is the term "thyroblastoma" more appropriate?

artículo científico publicado en 2020

Mammography screening and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a prospective study

article

Many mosaic mutations

artículo científico publicado en 2013

Matrix metalloproteinase-2 and tissue inhibitor of metalloproteinase-2 expression and synthetic matrix metalloproteinase-2 inhibitor binding in ovarian carcinomas and tumor cell lines.

artículo científico publicado en 1996

Melphalan as a treatment for BRCA-related ovarian carcinoma: can you teach an old drug new tricks?

scientific article published on 04 March 2011

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome

artículo científico publicado en 2019

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. Reply

scientific article published on 01 August 2019

Meta- and pooled analyses of GSTM1, GSTT1, GSTP1, and CYP1A1 genotypes and risk of head and neck cancer.

artículo científico publicado en 2003

Meta-analysis and pooled analysis of GSTM1 and CYP1A1 polymorphisms and oral and pharyngeal cancers: a HuGE-GSEC review

artículo científico publicado en 2008

Methionine Metabolism Shapes T Helper Cell Responses through Regulation of Epigenetic Reprogramming

artículo científico publicado en 2020

Mixed Ovarian Germ Cell Tumor in a BRCA2 Mutation Carrier

article

Molecular Genetics for the Clinician

article

Molecular Genetics of Ovarian Cancer: A Technical Overview

article

Molecular analyses reveal close similarities between small cell carcinoma of the ovary, hypercalcemic type and atypical teratoid/rhabdoid tumor

artículo científico publicado en 2015

Molecular characterization of the spectrum of genomic deletions in the mismatch repair genesMSH2,MLH1,MSH6, andPMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC)

article

Molecular cloning of the B-CAM cell surface glycoprotein of epithelial cancers: a novel member of the immunoglobulin superfamily

artículo científico publicado en 1994

Molecular genetics of ovarian cancer

artículo científico publicado en 2001

Muir Torre syndrome and MSH2 mutations: the importance of dermatological awareness

artículo científico publicado en 2006

Multi-omics data integration analysis identifies the spliceosome as a key regulator of DNA double-strand break repair

artículo científico publicado en 2022

Multimodal molecular screening is required to improve the sensitivity of MLH1 and MSH2 mutation analysis

artículo científico publicado en 2002

Multinodular Goiter in children: an important pointer to a germline DICER1 mutation

artículo científico publicado en 2014

Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion

artículo científico publicado en 2018

Multiple novel prostate cancer predisposition loci confirmed by an international study: the PRACTICAL Consortium

artículo científico publicado en 2008

Multiple primary malignancies in a patient with situs ambiguus

artículo científico publicado en 2006

Mutation analysis of PALB2 in BRCA1 and BRCA2-negative breast and/or ovarian cancer families from Eastern Ontario, Canada

artículo científico publicado en 2014

Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families

artículo científico publicado en 2012

Mutation analysis of RASK and the ‘FLR exon’ of NF1 in sporadic ovarian carcinoma

scientific article published on 01 January 1994

Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families

artículo científico publicado en 1996

Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families

article

Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome.

artículo científico publicado en 2004

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

scientific article published on 01 February 2019

Neonatal Gardner fibroma: a sentinel presentation of severe familial adenomatous polyposis

artículo científico publicado en 2010

No association between P53 codon 72 polymorphism and risk of squamous cell carcinoma of the head and neck

artículo científico publicado en 2000

No evidence of excessive cancer screening in female noncarriers from BRCA1/2 mutation-positive families

artículo científico publicado en 2017

No germline mutations in CDKN2A (p16) in patients with squamous cell cancer of the head and neck and second primary tumours.

artículo científico publicado en 2001

No small surprise - small cell carcinoma of the ovary, hypercalcaemic type, is a malignant rhabdoid tumour

artículo científico publicado en 2014

Nonovarian Pelvic Cancers in BRCA1/2 Mutation Carriers and the BRCAPRO Statistical Model

article

Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures

scientific article published on 20 November 2018

Novel genomic insertion-deletion in MLH1: possible mechanistic role for non-homologous end-joining DNA repair

artículo científico publicado en 2005

Oestrogen receptor status and survival in women with BRCA2-associated breast cancer

artículo científico publicado en 2019

Of mice and women

artículo científico publicado en 2002

Olaparib for Metastatic Castration-Resistant Prostate Cancer

artículo científico publicado en 2020

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

artículo científico publicado en 2010

Oophorectomy after menopause and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2019

Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2002

Ovarian Microcystic Stromal Tumors Are Characterized by Alterations in the Beta-Catenin-APC Pathway and May be an Extracolonic Manifestation of Familial Adenomatous Polyposis

artículo científico publicado en 2017

Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D

artículo científico publicado en 2020

Ovarian cancer risk and family history

scientific article published in The Lancet

Ovarian carcinoma histotype in Lynch syndrome.

artículo científico publicado en 2017

Ovarian embryonal rhabdomyosarcoma is a rare manifestation of the DICER1 syndrome.

artículo científico publicado en 2015

Ovarian sex cord-stromal tumors in patients with probable or confirmed germline DICER1 mutations.

artículo científico publicado en 2015

Ovarian small cell carcinoma in one of a pair of monozygous twins

article

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

artículo científico publicado en 2016

PALB2/FANCN, acteur dans la prédisposition au cancer du sein ?

article

PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2.

artículo científico publicado en 2012

PTEN, DICER1, FH, and Their Associated Tumor Susceptibility Syndromes: Clinical Features, Genetics, and Surveillance Recommendations in Childhood.

artículo científico publicado en 2017

Paediatric ovarian tumours and their associated cancer susceptibility syndromes

artículo científico publicado en 2017

Pancreatic adenocarcinoma: epidemiology and genetics

artículo científico publicado en 1996

Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach

artículo científico publicado en 2008

Penetrance of Mutations in the Familial Wilms Tumor Gene FWT1

article

Pheochromocytoma and paraganglioma syndromes: genetics and management update.

scientific article published on February 2014

Physical activity during adolescence and young adulthood and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2018

Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8

artículo científico publicado en 2020

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

artículo científico publicado en 2014

Placental cadherin and the basal epithelial phenotype of BRCA1-related breast cancer

artículo científico publicado en 2005

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

artículo científico publicado en 2016

Polygenic or Pollyanna?

article

Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms

artículo científico publicado en 2002

Polymorphisms in GSTM1, GSTT1 and CYP1A1 and risk of pancreatic adenocarcinoma

artículo científico publicado en 2000

Polymorphisms in P21CIP1/WAF1 are not correlated with TP53 status in sporadic ovarian tumours

artículo científico publicado en 1996

Pooled genome linkage scan of aggressive prostate cancer: results from the International Consortium for Prostate Cancer Genetics

artículo científico publicado en 2006

Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations

scientific article published on 14 January 2020

Population genetic testing for cancer susceptibility: founder mutations to genomes

artículo científico publicado en 2015

Post hoc Analysis for Detecting Individual Rare Variant Risk Associations Using Probit Regression Bayesian Variable Selection Methods in Case-Control Sequencing Studies

artículo científico publicado en 2016

Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Predictors of contralateral prophylactic mastectomy in women with a BRCA1 or BRCA2 mutation: the Hereditary Breast Cancer Clinical Study Group

artículo científico publicado en 2008

Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2

scientific article published in The Lancet

Prevalence and Penetrance of BRCA1 and BRCA2 Gene Mutations in Unselected Ashkenazi Jewish Women With Breast Cancer

article

Prevalence of <i>WWP1</i> Gene Mutations in Patients with Thyroid Nodules

artículo científico publicado en 2020

Prevalence of founder BRCA1 and BRCA2 mutations in unselected French Canadian women with breast cancer

artículo científico publicado en 2001

Preventing ovarian cancer by salpingectomy

artículo científico publicado en 2013

Preventing ovarian cancer by salpingectomy.

artículo científico publicado en 2013

Prevention and genetic testing for breast cancer: variations in medical decisions

article

Primary node negative breast cancer in BRCA1 mutation carriers has a poor outcome.

artículo científico publicado en 2000

Primary rhabdoid tumor of the ovary: When large cells become small cells

artículo científico publicado en 2015

Progesterone receptor variant increases ovarian cancer risk in BRCA1 and BRCA2 mutation carriers who were never exposed to oral contraceptives

artículo científico publicado en 2001

Prognostic importance of glomeruloid microvascular proliferation indicates an aggressive angiogenic phenotype in human cancers

article

Prognostic significance of CD8+ T lymphocytes in breast cancer depends upon both oestrogen receptor status and histological grade

article

Prognostic significance of FOXP3+ tumor-infiltrating lymphocytes in breast cancer depends on estrogen receptor and human epidermal growth factor receptor-2 expression status and concurrent cytotoxic T-cell infiltration

artículo científico publicado en 2014

Prophylactic oophorectomy for hereditary small cell carcinoma of the ovary, hypercalcemic type

artículo científico publicado en 2015

Prospective evaluation of alcohol consumption and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

scientific article published on 03 May 2015

Prospective evaluation of body size and breast cancer risk among BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2018

Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging

artículo científico publicado en 2011

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 Impact of Lynch Syndrome on Affected Individuals and Families

artículo científico

Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families

article

Qualitative thematic analysis of consent forms used in cancer genome sequencing

artículo científico publicado en 2011

RAD51C germline mutations in breast and ovarian cancer patients

artículo científico publicado en 2010

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

artículo científico publicado en 2016

Radiographic screening of infants and young children with genetic predisposition for rare malignancies: DICER1 mutations and pleuropulmonary blastoma

artículo científico publicado en 2015

Rapid progression of prostate cancer in men with a BRCA2 mutation

artículo científico publicado en 2008

Rare germline mutations in PALB2 and breast cancer risk: a population-based study

artículo científico publicado en 2012

Rare non-epithelial ovarian neoplasms: Pathology, genetics and treatment

artículo científico publicado en 2016

Ratio of female to male offspring of women tested for BRCA1 and BRCA2 mutations

artículo científico publicado en 2004

Re: "Family history of cancer and risk of lung cancer among lifetime nonsmoking women in the United States".

artículo científico publicado en 1997

Re: Estrogen receptor status of primary breast cancer is predictive of estrogen receptor status of contralateral breast cancer

artículo científico publicado en 2004

Re: Gynecologic Surgeries and Risk of Ovarian Cancer in Women with BRCA1 and BRCA2 Ashkenazi Founder Mutations: An Israeli Population-Based Case-Control Study

artículo científico publicado en 2003

Re: Italian Randomized Trial Among Women With Hysterectomy: Tamoxifen and Hormone-Dependent Breast Cancer in High-Risk Women

article

Re: Magnetic Resonance Imaging and Mammography in Women With a Hereditary Risk of Breast Cancer

artículo científico publicado en 2001

Re: Population-Based Study of BRCA1 and BRCA2 Mutations in 1035 Unselected Finnish Breast Cancer Patients

scientific article published on 01 January 2001

Re: Potential for Bias in Studies on Efficacy of Prophylactic Surgery for BRCA1 and BRCA2 Mutation Carriers

article

Reading between the lines: a comparison of responders and non-responders to a family history questionnaire and implications for cancer genetic counselling

artículo científico publicado en 2011

Recently characterized molecular events in uncommon gynaecological neoplasms and their clinical importance

artículo científico publicado en 2016

Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL

artículo científico publicado en 2020

Recommendations on breast cancer screening and prevention in the context of implementing risk stratification: impending changes to current policies

artículo científico publicado en 2016

Recurrent somatic DICER1 mutations in nonepithelial ovarian cancers

artículo científico publicado en 2011

Redefining authorship. Relative contribution should be given after each author's name

artículo científico publicado en 1996

Refinement of two chromosome 11q regions of loss of heterozygosity in ovarian cancer.

artículo científico publicado en 1996

Relationship between angiotensin-converting enzyme gene polymorphism and body composition, functional performance, and blood biomarkers in advanced cancer patients.

artículo científico publicado en 2009

Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study

article

Reprogramming of nucleotide metabolism mediates synergy between epigenetic therapy and MAP Kinase inhibition

artículo científico publicado en 2020

Results of a genome-wide linkage analysis in prostate cancer families ascertained through the ACTANE consortium.

artículo científico publicado en 2003

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

artículo científico publicado en 2017

Retinoblastoma linked with Seascale

artículo científico publicado en 1991

Retrospective evaluation of a decision-support algorithm (MIPOGG) for genetic referrals for children with neuroblastic tumors

scientific article published on 16 August 2018

Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?

artículo científico publicado en 2018

Rhabdomyolysis after intramuscular iron-dextran in malabsorption

artículo científico publicado en 1991

Risk Analysis of Prostate Cancer in PRACTICAL, a Multinational Consortium, Using 25 Known Prostate Cancer Susceptibility Loci

artículo científico publicado en 2015

Risk assessment & genetic testing

artículo científico publicado en 2002

Risk factors for familial and sporadic ovarian cancer among French Canadians: a case-control study.

artículo científico publicado en 1998

Risk of breast cancer after a diagnosis of ovarian cancer in BRCA mutation carriers: Is preventive mastectomy warranted?

artículo científico publicado en 2017

Risk of ipsilateral breast cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2011

Risk of non-medullary thyroid cancer influenced by polymorphic variation in the thyroglobulin gene.

artículo científico publicado en 2003

Risk of pancreatic cancer among individuals with a family history of cancer of the pancreas

artículo científico publicado en 2002

Risky business: getting a grip on BRIP

artículo científico publicado en 2016

Role of molecular diagnostic testing in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer families.

artículo científico publicado en 2001

SMARCA4 loss is synthetic lethal with CDK4/6 inhibition in non-small cell lung cancer

artículo científico publicado en 2019

SMARCA4-mutated atypical teratoid/rhabdoid tumors are associated with inherited germline alterations and poor prognosis

article

SMARCB1 loss induces druggable cyclin D1 deficiency via upregulation of MIR17HG in atypical teratoid rhabdoid tumors

scientific article published on 19 June 2020

SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors

artículo científico publicado en 2019

Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.

artículo científico publicado en 2006

Sarcoma and germ-line DICER1 mutations

scientific article published on 01 November 2016

Screening for cancer in high-risk families

artículo científico publicado en 1996

Screening for ovarian cancer

Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study.

artículo científico publicado en 2006

Screening mammography: the turning of the tide?

artículo científico publicado en 2014

Segregation analysis of squamous cell carcinoma of the head and neck: evidence for a major gene determining risk

article

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

artículo científico publicado en 2008

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma

artículo científico publicado en 2017

Serum levels of mature microRNAs in DICER1-mutated pleuropulmonary blastoma

artículo científico publicado en 2014

Should all BRCA1 mutation carriers with stage I breast cancer receive chemotherapy?

artículo científico publicado en 2013

Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5BRCA1 andBRCA2 mutations

article

Significantly greater prevalence of DICER1 alterations in uterine embryonal rhabdomyosarcoma compared to adenosarcoma

artículo científico publicado en 2020

Size surprise? Tumour size, nodal status, and outcome after breast cancer

artículo científico publicado en 2012

Small-Cell Carcinoma of the Ovary of Hypercalcemic Type (Malignant Rhabdoid Tumor of the Ovary): A Review with Recent Developments on Pathogenesis

artículo científico publicado en 2016

Small-Cell Carcinoma of the Ovary, Hypercalcemic Type-Genetics, New Treatment Targets, and Current Management Guidelines

scientific article published on 10 March 2020

Smoking and the risk of breast cancer among carriers of BRCA mutations

article

Smoking and the risk of breast cancer in BRCA1 and BRCA2 carriers: an update

artículo científico publicado en 2008

Somatic DICER1 mutations in adult-onset pulmonary blastoma.

artículo científico publicado en 2016

Somatic tumour testing establishes that bilateral dicer1-associated ovarian sertoli-leydig cell tumours represent independent primary neoplasms

scientific article published on 24 April 2020

Sonographic features of breast carcinoma presenting as masses in BRCA gene mutation carriers

artículo científico publicado en 2007

Spontaneous and therapeutic abortions and the risk of breast cancer among BRCA mutation carriers

artículo científico publicado en 2006

Sporadic desmoid tumor in an Ashkenazi patient homozygous for the APC*I1307K gene mutation

artículo científico publicado en 2008

Stathmin expression associates with vascular and immune responses in aggressive breast cancer subgroups

artículo científico publicado en 2020

Subtyping of breast cancer by immunohistochemistry to investigate a relationship between subtype and short and long term survival: a collaborative analysis of data for 10,159 cases from 12 studies

artículo científico publicado en 2010

Suggestive evidence for a site specific prostate cancer gene on chromosome 1p36. The CRC/BPG UK Familial Prostate Cancer Study Coordinators and Collaborators. The EU Biomed Collaborators

artículo científico publicado en 2000

Survival of patients with breast cancer and BRCA1 mutations

artículo científico publicado en 1998

Synchronous occult cancers of the endometrium and fallopian tube in an MSH2 mutation carrier at time of prophylactic surgery

artículo científico publicado en 2008

TBIO-25. CHOROID PLEXUS PAPILLOMAS IN FAMILIES WITH DICER1 MUTATION ASSOCIATED DISEASE

TP53 mutations in breast cancer associated with BRCA1 or BRCA2 germ-line mutations: distinctive spectrum and structural distribution.

artículo científico publicado en 2001

Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update

artículo científico publicado en 2006

Tamoxifen may be an effective adjuvant treatment for BRCA1-related breast cancer irrespective of estrogen receptor status

artículo científico publicado en 2002

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

Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes

scientific article published on 17 August 2019

The APCI1307K allele and breast cancer risk

artículo científico publicado en 1998

The BRCA2 c.9004G>A (E2003K) variant is likely pathogenic and recurs in breast and/or ovarian cancer families of French Canadian descent

article

The CDKN2A (p16) gene and human cancer.

artículo científico publicado en 1997

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

scientific article published on 01 November 2019

The G84E mutation of HOXB13 is associated with increased risk for prostate cancer: results from the REDUCE trial

artículo científico publicado en 2013

The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population

artículo científico publicado en 2022

The HNPCC associated MSH2*1906G-->C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population.

artículo científico publicado en 2005

The McGill Interactive Pediatric OncoGenetic Guidelines: An approach to identifying pediatric oncology patients most likely to benefit from a genetic evaluation

artículo científico publicado en 2017

The RNASEL 471delAAAG allele and prostate cancer in Ashkenazi Jewish men.

artículo científico publicado en 2003

The Risk of Breast Cancer in BRCA1 and BRCA2 Mutation Carriers without a First-Degree Relative with Breast Cancer

artículo científico publicado en 2017

The Value of DICER1 Mutation Analysis in "Subtle" Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix

artículo científico publicado en 2020

The Value of Multi-Modal Gene Screening in HNPCC in Quebec: Three Mutations in Mismatch Repair Genes that would have not been Correctly Identified by Genomic DNA Sequencing Alone

article

The basal phenotype of BRCA1-related breast cancer: past, present and future

artículo científico publicado en 2006

The combination of high cyclin E and Skp2 expression in breast cancer is associated with a poor prognosis and the basal phenotype

artículo científico

The contribution of founder mutations to early-onset breast cancer in French-Canadian women

article

The contribution of inherited factors to the clinicopathological features and behavior of breast cancer

artículo científico publicado en 2001

The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer

scientific article published on 06 May 2020

The dilemma of early preventive oophorectomy in familial small cell carcinoma of the ovary of hypercalcemic type

The effect of a DNA repair gene on cellular invasiveness: XRCC3 over-expression in breast cancer cells

artículo científico publicado en 2011

The effect of the I1307K APC polymorphism on the clinicopathological features and natural history of breast cancer

artículo científico publicado en 1999

The expanded role of NF1

scientific article published on 01 April 1993

The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population

artículo científico publicado en 2002

The frequent BRCA1 mutation 1135insA has multiple origins: a haplotype study in different populations

artículo científico publicado en 2006

The genetic landscape of choroid plexus tumors in children and adults

artículo científico publicado en 2020

The hereditary nature of small cell carcinoma of the ovary, hypercalcemic type: two new familial cases

artículo científico publicado en 2016

The histomorphology of Lynch syndrome-associated ovarian carcinomas: toward a subtype-specific screening strategy

artículo científico

The impact of pregnancy on breast cancer survival in women who carry a BRCA1 or BRCA2 mutation

artículo científico publicado en 2013

The importance of a family history of breast cancer in predicting the presence of a BRCA mutation

artículo científico publicado en 1999

The incidence of endometrial cancer in women with BRCA1 and BRCA2 mutations: an international prospective cohort study.

artículo científico publicado en 2013

The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers

artículo científico publicado en 2012

The influence of clinical and genetic factors on patient outcome in small cell carcinoma of the ovary, hypercalcemic type.

artículo científico publicado en 2016

The influence of familial and hereditary factors on the prognosis of breast cancer.

artículo científico publicado en 1999

The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations

artículo científico publicado en 2001

The polymorphic CAG repeat of the androgen receptor gene: a potential role in breast cancer in women over 40

article

The prognostic implication of the basal-like (cyclin E high/p27 low/p53+/glomeruloid-microvascular-proliferation+) phenotype of BRCA1-related breast cancer

artículo científico publicado en 2004

The risk of breast cancer in women with a BRCA1 mutation from North America and Poland

artículo científico publicado en 2011

The risk of ovarian cancer after breast cancer in BRCA1 and BRCA2 carriers

artículo científico publicado en 2005

The role of genetic factors in the etiology of pancreatic adenocarcinoma: an update

artículo científico publicado en 2001

Therapeutic implications of Src independent calcium mobilization in diffuse large B-cell lymphoma

artículo científico publicado en 2009

Thorough in silico and in vitro cDNA analysis of 21 putative BRCA1 and BRCA2 splice variants and a complex tandem duplication in BRCA2 allowing the identification of activated cryptic splice donor sites in BRCA2 exon 11.

artículo científico publicado en 2017

Traffic Control for BRCA1

article

Transforming growth factor-beta pathway disruption and infiltration of colorectal cancers by intraepithelial lymphocytes.

artículo científico publicado en 2006

Triple-Negative Breast Cancer

artículo científico publicado en 2010

Triple-negative and basal-like breast cancer: implications for oncologists

artículo científico publicado en 2011

Triple-negative breast cancer: distinguishing between basal and nonbasal subtypes

artículo científico publicado en 2009

Triple-negative breast cancer: risk factors to potential targets

artículo científico publicado en 2008

Tumor buds show reduced expression of laminin-5 gamma 2 chain in DNA mismatch repair deficient colorectal cancer.

artículo científico publicado en 2006

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

artículo científico publicado en 2008

Tumor mutational landscape is a record of the pre-malignant state

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

artículo científico publicado en 1993

Tumor progression in DICER1-mutated cystic nephroma-witnessing the genesis of anaplastic sarcoma of the kidney

artículo científico publicado en 2016

Tumor size and survival in breast cancer--a reappraisal

artículo científico publicado en 2010

Tumor size is an unreliable predictor of prognosis in basal-like breast cancers and does not correlate closely with lymph node status

artículo científico publicado en 2008

Tumour predisposition and cancer syndromes as models to study gene-environment interactions

artículo científico publicado en 2020

Tumour suppressor genes in ovarian cancer

artículo científico publicado en 1993

Use of immunohistochemical markers can refine prognosis in triple negative breast cancer

artículo científico publicado en 2007

Using a family history questionnaire to identify adult patients with increased genetic risk for sarcoma

artículo científico publicado en 2015

Uterine Tumor Resembling Ovarian Sex Cord Tumor (UTROSCT) Commonly Exhibits Positivity With Sex Cord Markers FOXL2 and SF-1 but Lacks FOXL2 and DICER1 Mutations.

artículo científico publicado en 2015

Utility of a Cancer Predisposition Screening Tool for Predicting Subsequent Malignant Neoplasms in Childhood Cancer Survivors

scientific article published in 2021

Validation of prostate cancer risk-related loci identified from genome-wide association studies using family-based association analysis: evidence from the International Consortium for Prostate Cancer Genetics (ICPCG)

artículo científico publicado en 2011

Validation study of thelambdamodel for predicting theBRCA1orBRCA2mutation carrier status of North American Ashkenazi Jewish women

article

Variation in prophylactic surgery decisions

artículo científico publicado en 2000

Variation in rates of uptake of preventive options by Canadian women carrying the BRCA1 or BRCA2 genetic mutation.

artículo científico publicado en 2007

Vascular proliferation is a prognostic factor in breast cancer

article

Vascular proliferation is increased in basal-like breast cancer

artículo científico publicado en 2011

Very frequent loss of heterozygosity throughout chromosome 17 in sporadic ovarian carcinoma

article

Weight gain after oophorectomy among women with a BRCA1 or BRCA2 mutation

artículo científico publicado en 2015

Will MRI screening deliver the expected survival advantage in BRCA 1 carriers?

artículo científico publicado en 2009

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

[Loss of human ICOSLG results in combined immunodeficiency]

artículo científico publicado en 2019

eIF4A Inhibitors Suppress Cell-Cycle Feedback Response and Acquired Resistance to CDK4/6 Inhibition in Cancer

scientific article published on 08 August 2019

gsSKAT: Rapid gene set analysis and multiple testing correction for rare-variant association studies using weighted linear kernels

artículo científico publicado en 2017

miRNA processing and human cancer: DICER1 cuts the mustard

artículo científico publicado en 2011

p53 — Master and Commander

article

Lista de obras de William D Foulkes

65 YEARS OF THE DOUBLE HELIX: Endocrine tumour syndromes in children and adolescents

65 YEARS OF THE DOUBLE HELIX: It's all in the DNA: understanding and managing endocrine neoplasms

A Case Report of Syndromic Multinodular Goitre in Adolescence: Exploring the Phenotype Overlap between Cowden and DICER1 Syndromes.

A Comprehensive Analysis ofMNG1,TCO1,fPTC,PTEN,TSHR, and TRKA in Familial Nonmedullary Thyroid Cancer: Confirmation of Linkage to TCO1

A PALB2 mutation associated with high risk of breast cancer

A basal epithelial phenotype is more frequent in interval breast cancers compared with screen detected tumors

A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis

A case of neuroblastoma in DICER1 syndrome: Chance finding or noncanonical causation?

A child with neuroblastoma and metachronous anaplastic sarcoma of the kidney: Underlying DICER1 syndrome?

A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment

A combined genomewide linkage scan of 1,233 families for prostate cancer-susceptibility genes conducted by the international consortium for prostate cancer genetics

A comparison of bilateral breast cancers in BRCA carriers

A comparison of models used to predict MLH1, MSH2 and MSH6 mutation carriers

A complex DICER1 syndrome phenotype associated with a germline pathogenic variant affecting the RNase IIIa domain of DICER1

A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

A genome-wide analysis of loss of heterozygosity and chromosomal copy number variation in Proteus syndrome using high-density SNP microarrays.

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype

A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening

A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening.

A mutational signature reveals alterations underlying deficient homologous recombination repair in breast cancer

A novel DICER 1 mutation in familial multinodular goitre.

A novel gene encoding a B-box protein within the BRCA1 region at 17q21.1.

A preclinical trial and molecularly-annotated patient cohort identify predictive biomarkers in homologous recombination deficient pancreatic cancer

A prior diagnosis of breast cancer is a risk factor for breast cancer in BRCA1 and BRCA2 carriers

A rapid fluorescent multiplexed-PCR analysis (FMPA) for founder mutations in the BRCA1 and BRCA2 genes

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer

A somatic BRCA1 mutation in an ovarian tumour

A survey of APC mutations in Quebec.

A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome

A whole-genome massively parallel sequencing analysis of BRCA1 mutant oestrogen receptor-negative and -positive breast cancers

A636P is associated with early-onset colon cancer in Ashkenazi Jews.

ALMNASplicing Mutation in Two Sisters with Severe Dunnigan-Type Familial Partial Lipodystrophy Type 2

ATYPICAL TERATOID RHABDOID TUMOUR

Adult-Onset Cervical Embryonal Rhabdomyosarcoma and DICER1 Mutations.

Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers

Age at menarche and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers

Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation

Alcohol consumption and the risk of breast cancer among BRCA1 and BRCA2 mutation carriers

Allele loss and mutation screen at the Peutz-Jeghers (LKB1) locus (19p13.3) in sporadic ovarian tumours.

Allele loss on chromosome 17q in sporadic ovarian cancer

An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1

An absence of founderBRCA2 mutations in individuals with squamous cell carcinoma of the head and neck

An assessment of the shared allelic architecture between type II diabetes and prostate cancer

An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor

An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

An ovarian tumor marker with homology to vaccinia virus contains an IgV-like region and multiple transmembrane domains

An update on the central nervous system manifestations of DICER1 syndrome

Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.

Analysis of PALB2/FANCN-associated breast cancer families

Analysis of Xq27-28 linkage in the international consortium for prostate cancer genetics (ICPCG) families

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in familial and sporadic pancreatic cancer

Analysis of the gene coding for the BRCA2-interacting protein PALB2 in hereditary prostate cancer

Analysis of the genes coding for the BRCA1-interacting proteins, RAP80 and Abraxas (CCDC98), in high-risk, non-BRCA1/2, multiethnic breast cancer cases.

Anaplastic sarcomas of the kidney are characterized by DICER1 mutations

Anthropometric Measures and Risk of Ovarian Cancer Among BRCA1 and BRCA2 Mutation Carriers

Antral Helicobacter pylori, hypergastrinaemia, and duodenal ulcers: effect of eradicating the organism

Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent

Are triple-negative tumours and basal-like breast cancer synonymous?

Are we there yet?

Association analysis of 9,560 prostate cancer cases from the International Consortium of Prostate Cancer Genetics confirms the role of reported prostate cancer associated SNPs for familial disease

Association between polymorphisms of the GPX1 gene and second primary tumours after index squamous cell cancer of the head and neck

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.

Atypical Tuberous Sclerosis Complex presenting as familial renal cell carcinoma with leiomyomatous stroma.

Atypical teratoid/rhabdoid tumors (ATRTs) with SMARCA4 mutation are molecularly distinct from SMARCB1-deficient cases

Author Correction: Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2

BRCA Mutations and Ductal Carcinoma In SituBRCA

BRCA mutations and survival in breast cancer

BRCA testing in women with high-grade serous ovarian cancer: gynecologic oncologist-initiated testing compared with genetics referral

BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: a clinical perspective

BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry

BRCA1 and BRCA2 families and the risk of skin cancer

BRCA1 and BRCA2: 1994 and beyond

BRCA1 and BRCA2: chemosensitivity, treatment outcomes and prognosis

BRCA1 and BRCA2: penetrating the clinical arena.