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List of works by Fergus J. Couch

11q13 is a susceptibility locus for hormone receptor positive breast cancer

scientific article

17q23 amplifications in breast cancer involve the PAT1, RAD51C, PS6K, and SIGma1B genes

scientific article (publication date: October 2000)

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

scientific article published on 13 February 2012

7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium

scientific article

9q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium

scientific article published on 02 August 2012

A Novel Automated Mammographic Density Measure and Breast Cancer Risk ⬇️

scientific article published on July 3, 2012

A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer

scientific article

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

article

A YAC-, P1-, and cosmid-based physical map of the BRCA1 region on chromosome 17q21.

scientific article published on January 1995

A candidate tumor suppressor HtrA1 is downregulated in ovarian cancer

scientific article (publication date: 26 February 2004)

A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity

scientific article published on 29 October 2012

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

scientific article published on 13 August 2019

A clinically compatible drug-screening platform based on organotypic cultures identifies vulnerabilities to prevent and treat brain metastasis

scientific article published on 17 February 2022

A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening

article

A common coding variant in CASP8 is associated with breast cancer risk

article

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

scientific article published on 30 October 2011

A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density

scientific article

A comprehensive examination of CYP19 variation and breast density

scientific article published in March 2007

A comprehensive examination of CYP19 variation and risk of breast cancer using two haplotype-tagging approaches

scientific article

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

scientific article

A contemporary review of male breast cancer: current evidence and unanswered questions

scientific article published on 01 December 2018

A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia

scientific article published on September 1, 1992

A genome wide linkage search for breast cancer susceptibility genes

scientific article published on July 2006

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

scientific article

A genome-wide association study to identify genetic susceptibility loci that modify ductal and lobular postmenopausal breast cancer risk associated with menopausal hormone therapy use: a two-stage design with replication

scientific article published on 20 February 2013

A guide for functional analysis of BRCA1 variants of uncertain significance

scientific article

A large-scale assessment of two-way SNP interactions in breast cancer susceptibility using 46,450 cases and 42,461 controls from the breast cancer association consortium

scientific article

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

scientific article

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

scientific article

A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium

scientific article published on 12 April 2012

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

scientific article published on 16 January 2020

A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

scientific article

A polygenic risk score for breast cancer in women receiving tamoxifen or raloxifene on NSABP P-1 and P-2.

scientific article

A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients

scientific article published on 16 December 2015

A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods study

scientific article published on 8 January 2015

A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers

scientific article published on 16 July 2020

A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

scientific article published on 3 November 2011

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

scientific article

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

scientific article published on 18 June 2018

A two-gene expression ratio of homeobox 13 and interleukin-17B receptor for prediction of recurrence and survival in women receiving adjuvant tamoxifen

scientific article

AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study

scientific article published on July 2007

Abstract 1291: High and moderate penetrance germline mutations in a number of genes are responsible for a small proportion of familial breast cancer risk in BRCAx families

article

Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer

article

Abstract 3266: Expression quantitative trait locus analysis of triple negative breast cancer

scientific article published on 30 September 2014

Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer

article published in 2014

Accuracy of self-reported cancer treatment data in young breast cancer survivors

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

article

Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers

scientific article

Alcohol consumption and breast tumor gene expression

scientific article published on 12 September 2017

Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery

scientific article

Altered expression of FANCL confers mitomycin C sensitivity in Calu-6 lung cancer cells

scientific article

An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression

scientific article

An international initiative to identify genetic modifiers of cancer risk in BRCA1 and BRCA2 mutation carriers: the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 (CIMBA)

scientific article

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

scientific article published on 25 April 2015

Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus

scientific article

Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis

scientific article published on 2 July 2015

Anti-mullerian hormone as a serum biomarker for risk of chemotherapy-induced amenorrhea

scientific article published on 07 November 2020

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

scientific article

Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study

scientific article

Assessment of functional effects of unclassified genetic variants

scientific article

Assessment of hepatocyte growth factor in ovarian cancer mortality

scientific article

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

scientific article published on 17 January 2018

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

scientific article

Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32

scientific article (publication date: 1993)

Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer

scientific article published on 01 June 2018

Association analysis identifies 65 new breast cancer risk loci.

scientific article published on 23 October 2017

Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival

scientific article

Association of ESR1 gene tagging SNPs with breast cancer risk

scientific article published on 06 January 2009

Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

scientific article published on 13 November 2019

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

scientific article

Association of Peutz-Jeghers-like mucocutaneous pigmentation with breast and gynecologic carcinomas in women

scientific article

Association of a HOXB13 variant with breast cancer

scientific article published on August 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.

scientific article

Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.

scientific article published on 21 October 2016

Association of breast cancer susceptibility variants with risk of pancreatic cancer

scientific article published on 20 October 2009

Association of childhood and adolescent anthropometric factors, physical activity, and diet with adult mammographic breast density

scientific article published on 04 June 2007

Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry

scientific article published on 06 April 2016

Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer

scientific article

Association of genetic variation in mitotic kinases with breast cancer risk

scientific article published on 30 April 2009

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

scientific article published on 18 August 2021

Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome

scientific article

Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality

scientific article

Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article

Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer

scientific article published on 13 April 2017

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

scientific article

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

scientific article published on 31 December 2014

Associations of common variants at 1p11.2 and 14q24.1 (RAD51L1) with breast cancer risk and heterogeneity by tumor subtype: findings from the Breast Cancer Association Consortium

scientific article published on 18 August 2011

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

Automated discovery of drug treatment patterns for endocrine therapy of breast cancer within an electronic medical record ⬇️

scientific article published on December 1, 2011

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

scientific article published on 26 December 2018

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

scientific article

BRCA1 Facilitates Stress-induced Apoptosis in Breast and Ovarian Cancer Cell Lines

scientific article published in Journal of Biological Chemistry

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

scientific article published on August 2012

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

scientific article published on 03 July 2019

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

scientific article published on 07 July 2015

BRCA1 and BRCA2 have a limited role in familial prostate cancer

scientific article published in March 2000

BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic

scientific article published on 01 February 2002

BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer

scientific article published on 01 May 1997

BRCA1 testing--advances and retreats

scientific article published on 01 March 1998

BRCA1/2 Mutations and Bevacizumab in the Neoadjuvant Treatment of Breast Cancer: Response and Prognosis Results in Patients With Triple-Negative Breast Cancer From the GeparQuinto Study

article

BRCA1/2 Sequence Variants of Uncertain Significance: A Primer for Providers to Assist in Discussions and in Medical Management ⬇️

scientific article published on April 24, 2013

BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer

scientific article published on 10 March 2017

BRCA2 Localization to the Midbody by Filamin A Regulates CEP55 Signaling and Completion of Cytokinesis ⬇️

scientific article published on July 5, 2012

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

scientific article

BRCA2 and pancreatic cancer

scientific article

BRCA2 germline mutations in male breast cancer cases and breast cancer families

scientific article published on 01 May 1996

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

scientific article published on 26 December 2012

Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers

scientific article published in December 2007

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

scientific article published in December 2017

Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk

scientific article published on 28 September 2020

Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers

scientific article

Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2

scientific article

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

scientific article

Breast-Cancer Risk in Families With Mutations in PALB2

Breast-cancer risk in families with mutations in PALB2

scientific article

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

scientific article published on 30 September 2020

CBP truncating mutations in ovarian cancer

scientific article published in June 2005

CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer

scientific article

COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration

scientific article published on 21 June 2013

CRM1 inhibitor anti-tumor activity is enhanced with salicylates by S-phase arrest and impaired DNA-damage repair

scientific article published on 02 November 2020

CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer

scientific article

CYP2B6*6 is associated with increased breast cancer risk

scientific article

Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families

scientific article published on 16 December 2019

Cancer risk assessment at the atomic level

scientific article published on 01 February 2006

Cancer susceptibility gene mutations in type I and II endometrial cancer

scientific article published on 26 October 2018

Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing

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

scientific article

Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk

scientific article published in February 2015

Cardiovascular Concerns in BRCA1 and BRCA2 Mutation Carriers

scientific article published in March 2018

Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis

scientific article published on 08 September 2009

Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci

scientific article published on 24 March 2015

Centrosome-related genes, genetic variation, and risk of breast cancer

scientific article

Characterization of 10 new polymorphic dinucleotide repeats and generation of a high-density microsatellite-based physical map of the BRCA1 region of chromosome 17q21

scientific article published on 01 December 1994

Characterization of EZH1, a human homolog of Drosophila Enhancer of zeste near BRCA1

scientific article

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 02 July 2020

Chromosomal mapping of the rat Slc4a family of anion exchanger genes, Ae1, Ae2, and Ae3

scientific article published on 01 May 1996

Cigarette smoking increases risk for breast cancer in high-risk breast cancer families

scientific article published on 01 April 2001

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

scientific article

Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort

scientific article published on 19 December 2019

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

scientific article

Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes

scientific article published in August 2017

Clinical options for women at high risk for breast cancer

scientific article

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

scientific article published on 15 February 2018

Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels

scientific article published on 03 December 2018

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance

scientific article published on 29 September 2008

Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes

scientific article

Combined associations of a polygenic risk score and classical risk factors with breast cancer risk

scientific article published on 02 May 2020

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

scientific article published on 23 March 2016

Common Genetic Variation and Breast Cancer Risk - Past, present, and future

scientific article published on 30 January 2018

Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article published on 18 May 2011

Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

scientific article

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.

scientific article published on 2 November 2011

Common breast cancer susceptibility loci are associated with triple-negative breast cancer

scientific article published on 15 August 2011

Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk

scientific article published on 27 March 2012

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Common genetic variants and modification of penetrance of BRCA2-associated breast cancer

scientific article

Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers

scientific article

Common germline polymorphisms associated with breast cancer-specific survival

scientific article published on 22 April 2015

Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium

scientific article

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

scientific article

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

scientific article published on 20 February 2012

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

scientific article published on 05 August 2009

Common variants in ZNF365 are associated with both mammographic density and breast cancer risk

scientific article

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

scientific article

Common variation in Nemo-like kinase is associated with risk of ovarian cancer

scientific article published on 17 January 2012

Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing

scientific article

Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models

scientific article published on 08 June 2018

Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer

scientific article published in October 2015

Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer

scientific article

Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing

scientific article published on 12 September 2016

Constant denaturant gel electrophoresis (CDGE) inBRCA1 mutation screening ⬇️

scientific article published on 01 January 1998

Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17

scientific article

Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women

scientific article published on 19 May 2020

Contribution of Inherited DNA-Repair Gene Mutations to Hormone-Sensitive and Castrate-Resistant Metastatic Prostate Cancer and Implications for Clinical Outcome

scientific article published on 17 September 2019

Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.

scientific article

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

scientific article published on 13 January 2023

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

scholarly article by Mia M Gaudet published in November 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.

scientific article

Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)

scientific article published in PLoS ONE

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on 01 January 2019

Counselling framework for moderate-penetrance cancer-susceptibility mutations

scientific article

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

scientific article

Current Approaches to Cancer Genetic Counseling Services for Spanish-Speaking Patients

scientific article published on 01 April 2019

Cytochrome P450 2D6 and homeobox 13/interleukin-17B receptor: combining inherited and tumor gene markers for prediction of tamoxifen resistance

scientific article published on September 2008

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

scientific article

DNA mismatch repair gene MSH6 implicated in determining age at natural menopause

scientific article published on 19 December 2013

Dense and nondense mammographic area and risk of breast cancer by age and tumor characteristics

scientific article published on 25 February 2015

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

scientific article

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

scientific article

Development of donor-derived prostate cancer in a recipient following orthotopic heart transplantation

scientific article published on 01 January 1997

Dinucleotide repeat polymorphism at the D10S178 locus ⬇️

scientific article published on March 25, 1992

Dinucleotide repeat polymorphism at the D10S179 locus.

scientific article

Dinucleotide repeat polymorphism at the D17S518 locus

scientific article

Dinucleotide repeat polymorphism at the D8S161 locus

scientific article

Dinucleotide repeat polymorphism at the RYR1 locus (19q13.1).

scientific article published in September 1991

Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis

scientific article published in January 1997

Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia

scientific article

Does mammographic density mediate risk factor associations with breast cancer? An analysis by tumor characteristics

scientific article published on 3 March 2018

Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1 ⬇️

scientific article published on August 20, 2012

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

scientific article published on 26 April 2018

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes

scientific article published on 3 November 2011

ERBB2, TBX2, RPS6KB1, and MYC alterations in breast tissues of BRCA1 and BRCA2 mutation carriers

scientific article published in September 2004

ERβ1: characterization, prognosis, and evaluation of treatment strategies in ERα-positive and -negative breast cancer

scientific article

Effect of germline mutations in homologous recombination repair genes on overall survival of patients with pancreatic adenocarcinoma

scientific article published on 07 October 2020

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

scientific article

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

scientific article

Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers

scientific article published on 01 November 2001

Erratum to: Mammographic texture and risk of breast cancer by tumor type and estrogen receptor status

scientific article published on 4 January 2017

Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

scientific article published on 7 November 2017

Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk

scholarly article published in Nature Genetics

Erratum: Corrigendum: Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk

scientific article published in Nature Communications

Estrogen receptor beta repurposes EZH2 to suppress oncogenic NFκB/p65 signaling in triple negative breast cancer

scientific article published on 17 February 2022

Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation

scientific article published in March 2018

Evaluation and Adaptation of a Laboratory-Based cDNA Library Preparation Protocol for Retrospective Sequencing of Archived MicroRNAs from up to 35-Year-Old Clinical FFPE Specimens

scientific article

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer

scientific article published on May 2016

Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer

scientific article published on 03 March 2020

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

scientific article

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers of BRCA1/BRCA2 (CIMBA).

scientific article

Evaluation of associations between common variation in mitotic regulatory pathways and risk of overall and high grade breast cancer ⬇️

scientific article published on May 24, 2011

Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers

scientific article

Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

scientific article published on February 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

scientific article

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.

scientific article

Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk

scientific article published on 27 October 2011

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

scientific article

Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors

scientific article published on 27 March 2013

Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation

scientific article

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation

scientific article published on 03 September 2016

Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer

scientific article

Exploring the link between MORF4L1 and risk of breast cancer

scientific article

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

scientific article

FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium

scientific article published on February 2014

Familial breast cancer. Approaching the isolation of a susceptibility gene

scientific article published on August 1994

Fanconi anemia complementation group D2 (FANCD2) functions independently of BRCA2- and RAD51-associated homologous recombination in response to DNA damage.

scientific article published on 25 January 2005

Fibroblast growth factor receptor 2 translocations in intrahepatic cholangiocarcinoma

scientific article

Fifty-year follow-up of cancer incidence in a historical cohort of Minnesota breast cancer families.

scientific article published in December 1999

Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).

scientific article published on 07 September 2016

Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus

scientific article

Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

scientific article

Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.

scientific article published on 4 February 2015

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

scientific article published on 07 January 2020

Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk

scientific article

Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer

scientific article

Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk

scientific article

Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.

scientific article

Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.

scientific article

Five endometrial cancer risk loci identified through genome-wide association analysis

scientific article published on 02 May 2016

Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium

scientific article

Folate receptor alpha expression associates with improved disease-free survival in triple negative breast cancer patients

scientific article published on 04 February 2020

Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.

scientific article published on 7 September 2017

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

scientific article published on November 1996

From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals

scientific article published on 9 November 2017

Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2

scientific article published on 22 November 2019

Functional assays for BRCA1 and BRCA2.

scientific article published on 18 August 2006

Functional assays for analysis of variants of uncertain significance in BRCA2.

scientific article published on 03 December 2013

Functional assays for classification of BRCA2 variants of uncertain significance

scientific article

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

scientific article published on 02 March 2016

Functional characterization of 84 PALB2 variants of uncertain significance

scientific article published on 21 October 2019

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants

article by William Ka-Kei Wu et al published 1 January 2005 in Cancer Research

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

scientific article published on 7 September 2016

Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma

scientific article published on 04 August 2009

Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers

scientific article published on 27 March 2013

Gene-Expression–Based Predictors for Breast Cancer

article

Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium

scientific article published on 3 July 2017

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

scientific article

Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication

scientific article published on 12 August 2017

Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13

scientific article

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

scientific article

Genetic Alterations Associated With Progression From Pancreatic Intraepithelial Neoplasia to Invasive Pancreatic Tumor ⬇️

scientific article published on August 2, 2013

Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer

scientific article published on 22 August 2016

Genetic Susceptibility to Triple-Negative Breast Cancer ⬇️

scientific article published on March 27, 2013

Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) C

scientific article published on 26 October 2018

Genetic analysis of early- versus late-stage ovarian tumors.

scientific article published in August 2001

Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations

scientific article published on January 1995

Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing

scientific article published on 2 February 2015

Genetic epidemiology of BRCA1.

scientific article published on 24 June 2004

Genetic heterogeneity in Peutz-Jeghers syndrome

scientific article

Genetic heterogeneity in hereditary breast cancer: role of BRCA1 and BRCA2.

scientific article published in September 1996

Genetic insights into biological mechanisms governing human ovarian ageing

scientific article

Genetic modifiers of CHEK2*1100delC-associated breast cancer risk

scientific article published on 06 October 2016

Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study

scientific article

Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.

scientific article published on 2 April 2018

Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer

scientific article published on 29 July 2019

Genetic predisposition to ductal carcinoma in situ of the breast

scientific article published on 17 February 2016

Genetic predisposition to in situ and invasive lobular carcinoma of the breast

scientific article

Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma

scholarly article by Annemieke W J Opstal-van Winden et al published 7 March 2019 in Blood

Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers

scientific article

Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study

scientific article

Genetic variation in IGF2 and HTRA1 and breast cancer risk among BRCA1 and BRCA2 carriers

scientific article

Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers

scientific article published on January 2009

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

scientific article

Genetic variation in stromal proteins decorin and lumican with breast cancer: investigations in two case-control studies

scientific article

Genetic variation in the chromosome 17q23 amplicon and breast cancer risk

scientific article published on 19 May 2009

Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer

scientific article

Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium

scientific article published on 30 November 2015

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

scientific article published on 27 May 2005

Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent

scientific article (publication date: August 2016)

Genetics of the FANCA gene in familial pancreatic cancer

scientific article

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

scientific article published in September 2016

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

scientific article published on 22 January 2012

Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

scientific article

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

article

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

scientific article published in April 2013

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

scientific article published on 9 December 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 multiple loci associated with both mammographic density and breast cancer risk

scientific article

Genome-wide association study identifies novel breast cancer susceptibility loci

scientific article published on 28 June 2007

Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk

scientific article (publication date: 2013)

Genome-wide association study of germline variants and breast cancer-specific mortality

scientific article published on 21 February 2019

Genomic Biomarkers for Breast Cancer Risk

scientific article published on January 2016

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

scientific article published on 24 April 2017

Germ line Fanconi anemia complementation group C mutations and pancreatic cancer

scientific article published on 01 January 2005

Germline Genetic Testing for Breast Cancer Risk: The Past, Present, and Future

scientific article published on 01 January 2019

Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk

scientific article published on 16 June 2020

Germline genetic testing in breast cancer: Rationale for the testing of all women diagnosed by the age of 60 years and for risk-based testing of those older than 60 years

scientific article published on 04 November 2020

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

scientific article published on 21 November 2017

Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study

scientific article published in February 1996

Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers

scientific article

Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study

scientific article published on 01 April 2019

Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization

scientific article

Hereditary Cancer Syndromes-A Primer on Diagnosis and Management, Part 2: Gastrointestinal Cancer Syndromes

scientific article published on 01 June 2019

Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes

scientific article published on 01 June 2019

Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics

scientific article

Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers

scientific article published on 17 December 2015

Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening

scientific article published on 03 July 2019

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

scientific article published on 06 April 2016

I1307K APC variant in non-Ashkenazi Jewish women affected with breast cancer

scientific article published on 01 July 1999

I1307K APC variant in non‐Ashkenazi Jewish women affected with breast cancer

Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk

scientific article

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

scientific article published on January 2013

Identification and validation of an anthracycline/cyclophosphamide-based chemotherapy response assay in breast cancer

scientific article published on January 2014

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

scientific article

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

scientific article

Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk

scientific article published on 27 March 2013

Identification of a novel percent mammographic density locus at 12q24.

scientific article

Identification of a pyruvate-to-lactate signature in pancreatic intraductal papillary mucinous neoplasms

scientific article published on 14 November 2017

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

scientific article published on 27 April 2016

Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus

scientific article

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

scientific journal article

Identification of molecular subtypes within a formalin-fixed, paraffin-embedded breast cancer tumour cohort.

scientific article published on 18 May 2010

Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions

scientific article

Identification of nine new susceptibility loci for endometrial cancer

scientific article published in Nature Communications

Identification of novel genetic markers of breast cancer survival

scientific article published on 18 April 2015

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

scientific article published on 12 January 2015

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

scientific article published on 23 October 2017

Impact of Personalized Genetic Breast Cancer Risk Estimation With Polygenic Risk Scores on Preventive Endocrine Therapy Intention and Uptake

scientific article published on 23 October 2020

Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation

scientific article published on 14 February 2019

Impact of histopathology, tumor-infiltrating lymphocytes, and adjuvant chemotherapy on prognosis of triple-negative breast cancer

scientific article published on 14 September 2017

Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer

scientific article published on 23 June 2016

Inactivation of Brca2 Promotes Trp53-Associated but Inhibits KrasG12D-Dependent Pancreatic Cancer Development in Mice ⬇️

scientific article published on January 1, 2011

Incorporating progesterone receptor expression into the PREDICT breast prognostic model

scientific article published in 2022

Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer

scientific article published in May 2005

Induction of the BRCA2 promoter by nuclear factor-kappa B

scientific article published on 01 November 2000

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

scientific article

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

scientific article

Inherited mutations in breast cancer patients with and without multiple primary cancers

Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer

scientific article

Integrated Genomic Analysis of Pancreatic Ductal Adenocarcinomas Reveals Genomic Rearrangement Events as Significant Drivers of Disease

scientific article published on 16 December 2015

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

scientific article

Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance

scientific article published on 22 October 2020

Interaction of mammographic breast density with menopausal status and postmenopausal hormone use in relation to the risk of aggressive breast cancer subtypes

scientific article published on 17 June 2017

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

scientific article

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

scientific article

Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors

scientific article

Is BRCA1 associated with familial breast cancer in India?

scientific article published on 01 January 2002

Joint association of mammographic density adjusted for age and body mass index and polygenic risk score with breast cancer risk

article

Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium

scientific article published on 5 January 2018

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

scientific article published on 01 September 2019

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

scientific article

Linkage analysis of obesity phenotypes in pre- and post-menopausal women from a United States mid-western population

scientific article

Localization of BRCA1 and a splice variant identifies the nuclear localization signal

scientific article published on January 1997

Localization of PS6K to chromosomal region 17q23 and determination of its amplification in breast cancer

scientific article published on 01 April 1999

Localization of the gene for ATP citrate lyase (ACLY) distal to gastrin(GAS) and proximal to D17S856 on chromosome 17q12-q21

scientific article published on 01 May 1994

Localization of the human homolog of the yeast cell division control 27 gene (CDC27) proximal to ITGB3 on human chromosome 17q21.3

scientific article

Loss of the Transcription Factor GLI1 Identifies a Signaling Network in the Tumor Microenvironment Mediating KRAS Oncogene-induced Transformation ⬇️

scientific article published on March 12, 2013

Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium

scientific article

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

scientific article

Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results

scientific article published on 22 December 2016

Male breast cancer in the United States: Treatment patterns and prognostic factors in the 21st century

scientific article published on 07 October 2019

Mammographic breast density and breast cancer: evidence of a shared genetic basis

scientific article

Mammographic density and risk of breast cancer by age and tumor characteristics

scientific article

Mammographic texture and risk of breast cancer by tumor type and estrogen receptor status

scientific article published on 06 December 2016

Management of Breast Cancer Risk in Women with Ovarian Cancer and Deleterious BRCA1 or BRCA2 Mutations

scientific article published on 20 July 2017

Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities

scientific article published on 26 January 2022

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers

scientific article published on 19 June 2019

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

scientific article published in October 2021

Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.

scientific article

MicroRNA related polymorphisms and breast cancer risk

scientific article

Microarray based expression profiling of BRCA1 mutated human tumours using a breast-specific platform to identify a profile of BRCA1 deficiency

scientific article published on 18 May 2010

Microcephalin regulates BRCA2 and Rad51-associated DNA double-strand break repair

scientific article published on 23 June 2009

Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls

scientific article

Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes

scientific article

Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers

scientific article published on 07 July 2009

Molecular Basis for the Association of Microcephalin (MCPH1) Protein with the Cell Division Cycle Protein 27 (Cdc27) Subunit of the Anaphase-promoting Complex

scientific article

Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer.

scientific article published on 13 November 2007

Molecular markers of risk of subsequent invasive breast cancer in women with ductal carcinoma in situ: protocol for a population-based cohort study

publication published on 26 October 2021

Molecular mechanisms linking high body mass index to breast cancer etiology in post-menopausal breast tumor and tumor-adjacent tissues

scientific article published on 01 November 2018

Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes

scientific article published on 25 July 2018

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

scientific article published on April 2013

Mutant K-Ras increases GSK-3β gene expression via an ETS-p300 transcriptional complex in pancreatic cancer ⬇️

scientific article published on March 28, 2011

Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers

scientific article published on 19 August 2020

Mutation analysis of the BRCA1 gene in ovarian cancers.

scientific article published on July 1995

Mutation prevalence tables for hereditary cancer derived from multi-gene panel testing

scientific article published on 22 May 2020

Mutation screening of RAD51C in high-risk breast and ovarian cancer families ⬇️

scientific article published on September 1, 2012

Mutation screening of dihydropyridine receptor gamma subunit cDNA from malignant hyperthermia susceptible patients

scientific article published on 01 May 1995

Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations

scientific article published on 15 February 2018

Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers

scientific article

Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core

scientific article published on 01 January 1996

Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer

scientific article published on 01 December 1994

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

article

Mutations of the BRCA2 gene in ovarian carcinomas

scientific article published on 01 June 1996

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

scientific article published on 29 March 2009

No association between a candidate TCF7L2 variant and risk of breast or ovarian cancer

scientific article

No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study

scientific article published on 04 June 2008

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

scientific article published in May 2015

No evidence for association of inherited variation in genes involved in mitosis and percent mammographic density

scientific article

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

scientific article published on 11 December 2008

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

scientific article published on 26 February 2016

Non-BRCA familial breast cancer: review of reported pathology and molecular findings

scientific article

Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures

scientific article published on 10 April 2015

Novel patient-derived xenograft mouse model for pancreatic acinar cell carcinoma demonstrates single agent activity of oxaliplatin

scientific article published on 10 May 2016

Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers

scientific article

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

scientific article

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

scientific article published on 12 February 2019

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

scientific article

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

scientific article published on 28 February 2020

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

scientific article

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

scientific article published in December 2016

PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.

scientific article published on 12 October 2017

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

scientific article

PS6K amplification characterizes a small subset of anaplastic meningiomas

scientific article

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

Pathogenic Variants in Cancer Predisposition Genes and Prostate Cancer Risk in Men of African Ancestry

scientific article published on 31 January 2020

Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)

scientific article published on 5 December 2011

Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium

scientific article published on 03 October 2016

Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing

scientific article published on 28 March 2019

Performance of automated scoring of ER, PR, HER2, CK5/6 and EGFR in breast cancer tissue microarrays in the Breast Cancer Association Consortium

scientific article published on 4 December 2014

Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes

scientific article

Plumbagin inhibits tumorigenesis and angiogenesis of ovarian cancer cells in vivo

scientific article

Poly(ADP-ribose) polymerase-1 down-regulates BRCA2 expression through the BRCA2 promoter

scientific article

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

scientific article

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

scientific article published on 15 July 2020

Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk

scientific article published on 18 August 2009

Polymorphisms in PTEN in breast cancer families

scientific article

Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression

scientific article published on 11 June 2015

Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study

scientific article

Prediction and assessment of splicing alterations: implications for clinical testing

scientific article

Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

scientific article

Prediction of breast cancer risk based on profiling with common genetic variants

scientific article published on 8 April 2015

Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML

scientific article published on 29 April 2020

Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients

scientific article published on 19 October 2015

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

scientific article published on 18 October 2016

Progress toward Isolation of a Breast Cancer Susceptibility Gene, BRCA1 ⬇️

scientific article published on 01 January 1994

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

scientific article published on 28 March 2011

Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.

scientific article published on 10 April 2018

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

scientific article published on 23 September 2019

RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies

scientific article published on 16 October 2007

RAD51B in Familial Breast Cancer

scientific article

Racial and ethnic differences in multigene hereditary cancer panel test results for women with breast cancer

scientific article published on 04 November 2020

Racial disparity in breast cancer and functional germ line mutation in galectin-3 (rs4644): a pilot study

scientific article

Rapid progression of prostate cancer in men with a BRCA2 mutation

scientific article published on 24 June 2008

Rare variants in XRCC2 as breast cancer susceptibility alleles

scientific article published on October 2012

Real-world experiences with acupuncture among breast cancer survivors: a cross-sectional survey study

scientific article published on 06 April 2020

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework

scientific article published on 31 December 2019

Refined genetic localization for central core disease

scientific article

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia

scientific article

Reply to On the proportion of male breast cancer among all breast cancers

scientific article published on 03 February 2020

Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.

scientific article published on 7 November 2017

Response: Table 1

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

Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands' Susceptibility Gene Mutation Status

scientific article published on 01 March 2019

Risk of breast cancer with oral contraceptive use in women with a family history of breast cancer

scientific article published on 01 October 2000

Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.

scientific article published on 30 June 2009

Risk of ovarian cancer and inherited variants in relapse-associated genes

scientific article

SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival

scientific article published on 22 July 2015

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

scientific article

Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers

scientific article published on 10 February 2008

Shared heritability and functional enrichment across six solid cancers

scientific article published in Nature Communications

Shared heritability and functional enrichment across six solid cancers

SoftSearch: integration of multiple sequence features to identify breakpoints of structural variations

scientific article

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

scientific article

Spontaneous vulvar papillomas in a colony of mice used for pancreatic cancer research.

scientific article published on June 2008

Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells

scientific article

Strong evidence of a genetic determinant for mammographic density, a major risk factor for breast cancer

scientific article published in September 2007

Structural analysis of the 17q22-23 amplicon identifies several independent targets of amplification in breast cancer cell lines and tumors

scientific article published on 01 July 2001

Subtypes of familial breast tumours revealed by expression and copy number profiling

scientific article

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

scientific article

TBX2 is preferentially amplified in BRCA1- and BRCA2-related breast tumors

scientific article published on 01 July 2002

TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer

scientific article published on 5 February 2017

Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer

scientific article published in April 2007

Targeted Therapy for BRCA2 Deficient Tumors

scientific article published on 20 July 2005

Tex14, a Plk1-Regulated Protein, Is Required for Kinetochore-Microtubule Attachment and Regulation of the Spindle Assembly Checkpoint ⬇️

scientific article published on March 9, 2012

The 17q23 amplicon and breast cancer

scientific article

The Association of Modifiable Breast Cancer Risk Factors and Somatic Genomic Alterations in Breast Tumors: The Cancer Genome Atlas Network

scientific article published on 13 January 2020

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

scientific article published on 10 May 2017

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity

scientific article published on 20 February 2018

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

scientific article published on 01 November 2019

The Germline MLH1 K618A Variant and Susceptibility to Lynch Syndrome-Associated Tumors ⬇️

scientific article published on March 13, 2012

The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers

scientific article

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

scientific article published on 28 February 2018

The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers

scientific article published on 03 October 2016

The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk

scientific article published on 9 November 2016

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

scientific article published on April 2015

The association of copy number variation and percent mammographic density

scientific article published on 8 July 2015

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds

scientific article published on March 1996

The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort

scientific article published on 24 February 2020

The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk

scientific article

The contributions of breast density and common genetic variation to breast cancer risk

scientific article

The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen

scientific article

The influence of mammogram acquisition on the mammographic density and breast cancer association in the mayo mammography health study cohort ⬇️

scientific article published on November 15, 2012

The oncogenic STP axis promotes triple-negative breast cancer via degradation of the REST tumor suppressor

scientific article published on 6 November 2014

The postmenopausal hormone replacement therapy-related breast cancer risk is decreased in women carrying the CYP2C19*17 variant

article

The prevalence of BRCA2 mutations in familial pancreatic cancer

scientific article published on 01 February 2007

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

scientific article published on 8 March 2011

The role of Tbx2 and Tbx3 in mammary development and tumorigenesis

scientific article published in April 2004

The role of genetic breast cancer susceptibility variants as prognostic factors

scientific article

Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach

scientific article published on 11 April 2017

Transcript identification in the BRCA1 candidate region

scientific article published on January 1995

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

scientific article published on 01 March 2020

Transcriptomic and Immunohistochemical Profiling of SLC6A14 in Pancreatic Ductal Adenocarcinoma

scientific article published on 27 May 2015

Trends in mastectomy rates at the Mayo Clinic Rochester: effect of surgical year and preoperative magnetic resonance imaging

scientific article published on 27 July 2009

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

article

Truncating variants in p53AIP1 disrupting DNA damage-induced apoptosis are associated with prostate cancer risk

scientific article published in November 2006

Two decades after BRCA: setting paradigms in personalized cancer care and prevention

scientific article

Two truncating variants in FANCC and breast cancer risk

scientific article published on 29 August 2019

Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers

scientific article

Utilizing Nottingham Prognostic Index in microarray gene expression profiling of breast carcinomas

scientific article

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

scientific article published on 09 March 2020

Variation at 8q24 and 9p24 and risk of epithelial ovarian cancer

scientific article

Variation in genes required for normal mitosis and risk of breast cancer

scientific article

Von Hippel-Lindau gene product directs cytokinesis: a new tumor suppressor function ⬇️

scientific article published on June 7, 2011

Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer

scientific article published on 16 December 2020

p53 mediates repression of the BRCA2 promoter and down-regulation of BRCA2 mRNA and protein levels in response to DNA damage

scientific article published on 18 February 2003

p73 mutations are not detected in sporadic and hereditary breast cancer

scientific article published on 01 November 1999

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

scientific article

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