Fergus J. Couch

Professor Mayo Clinic

Fergus J. Couch is …
instance of (P31):
humanQ5

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P496ORCID iD0000-0001-9417-9985

P734family nameCouchQ16865801
CouchQ16865801
CouchQ16865801
P106occupationresearcherQ1650915
P21sex or gendermaleQ6581097

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author (P50)
Q3601638611q13 is a susceptibility locus for hormone receptor positive breast cancer
Q2814132017q23 amplifications in breast cancer involve the PAT1, RAD51C, PS6K, and SIGma1B genes
Q3587156719p13.1 is a triple-negative-specific breast cancer susceptibility locus
Q360214067q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium
Q371698739q31.2-rs865686 as a susceptibility locus for estrogen receptor-positive breast cancer: evidence from the Breast Cancer Association Consortium
Q40495288A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer
Q59355837A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk
Q36706890A YAC-, P1-, and cosmid-based physical map of the BRCA1 region on chromosome 17q21.
Q28238155A candidate tumor suppressor HtrA1 is downregulated in ovarian cancer
Q36511037A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity
Q92578601A 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
Q112302372A clinically compatible drug-screening platform based on organotypic cultures identifies vulnerabilities to prevent and treat brain metastasis
Q63363987A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening
Q57250674A common coding variant in CASP8 is associated with breast cancer risk
Q35755874A common variant at the TERT-CLPTM1L locus is associated with estrogen receptor-negative breast cancer
Q35957063A comprehensive evaluation of interaction between genetic variants and use of menopausal hormone therapy on mammographic density
Q44971724A comprehensive examination of CYP19 variation and breast density
Q33844619A comprehensive examination of CYP19 variation and risk of breast cancer using two haplotype-tagging approaches
Q33857421A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1
Q57105844A contemporary review of male breast cancer: current evidence and unanswered questions
Q42607786A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia
Q37272982A genome wide linkage search for breast cancer susceptibility genes
Q34744122A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis
Q37192589A 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
Q26829268A guide for functional analysis of BRCA1 variants of uncertain significance
Q37619303A 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
Q35089479A 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
Q36435849A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11.
Q46944120A multi-centre international quality control study comparing mRNA splicing assay protocols and reporting practices from the ENIGMA consortium
Q92711687A network analysis to identify mediators of germline-driven differences in breast cancer prognosis
Q36152991A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers
Q36790591A novel automated mammographic density measure and breast cancer risk
Q35082982A polygenic risk score for breast cancer in women receiving tamoxifen or raloxifene on NSABP P-1 and P-2.
Q35870483A polymorphism in the base excision repair gene PARP2 is associated with differential prognosis by chemotherapy among postmenopausal breast cancer patients
Q35832845A preliminary investigation of genetic counselors' information needs when receiving a variant of uncertain significance result: a mixed methods study
Q97519331A rare TP53 mutation predominant in Ashkenazi Jews confers risk of multiple cancers
Q35622910A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
Q36492194A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes
Q57305942A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer
Q28306747A two-gene expression ratio of homeobox 13 and interleukin-17B receptor for prediction of recurrence and survival in women receiving adjuvant tamoxifen
Q37417780AURKA F31I polymorphism and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a consortium of investigators of modifiers of BRCA1/2 study
Q57907595Abstract 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
Q57907601Abstract 2378: Harmonization of next generation sequencing data within consortia for gene discovery in familial breast cancer
Q61948755Abstract 3266: Expression quantitative trait locus analysis of triple negative breast cancer
Q57907603Abstract 3282: Determination of cancer susceptibility in probands with breast and ovarian cancer
Q64075852Accuracy of self-reported cancer treatment data in young breast cancer survivors
Q57266698Age at first birth and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
Q39437211Age- and Tumor Subtype-Specific Breast Cancer Risk Estimates for CHEK2*1100delC Carriers
Q40045112Alcohol consumption and breast tumor gene expression
Q33924952Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery
Q34581742Altered expression of FANCL confers mitomycin C sensitivity in Calu-6 lung cancer cells
Q36073563An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression
Q34623703An 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)
Q35618307An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers
Q33641475Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus
Q35681656Annexin A1 expression in a pooled breast cancer series: association with tumor subtypes and prognosis
Q101410424Anti-mullerian hormone as a serum biomarker for risk of chemotherapy-induced amenorrhea
Q35242849Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers
Q34613673Assessing 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
Q37308298Assessment of functional effects of unclassified genetic variants
Q35156876Assessment of hepatocyte growth factor in ovarian cancer mortality
Q50210067Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
Q35218520Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with prognosis of estrogen receptor-negative breast cancer after chemotherapy
Q28238033Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32
Q89160515Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer
Q45979098Association analysis identifies 65 new breast cancer risk loci.
Q33828680Association between a germline OCA2 polymorphism at chromosome 15q13.1 and estrogen receptor-negative breast cancer survival
Q37292963Association of ESR1 gene tagging SNPs with breast cancer risk
Q91271723Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
Q36072765Association 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
Q34064603Association of Peutz-Jeghers-like mucocutaneous pigmentation with breast and gynecologic carcinomas in women
Q37588396Association of a HOXB13 variant with breast cancer
Q36178189Association 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.
Q37684672Association of breast cancer risk with genetic variants showing differential allelic expression: Identification of a novel breast cancer susceptibility locus at 4q21.
Q35640794Association of breast cancer susceptibility variants with risk of pancreatic cancer
Q80428410Association of childhood and adolescent anthropometric factors, physical activity, and diet with adult mammographic breast density
Q37268494Association of genetic susceptibility variants for type 2 diabetes with breast cancer risk in women of European ancestry
Q34809698Association of genetic variation in genes implicated in the beta-catenin destruction complex with risk of breast cancer
Q37485135Association of genetic variation in mitotic kinases with breast cancer risk
Q114182713Association 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
Q24647329Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome
Q34135443Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality
Q34801008Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
Q35957703Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer
Q46782579Associations Between Cancer Predisposition Testing Panel Genes and Breast Cancer
Q35022847Associations of breast cancer risk factors with tumor subtypes: a pooled analysis from the Breast Cancer Association Consortium studies
Q35523236Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
Q35532898Associations 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
Q57056093Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis
Q36085073Automated discovery of drug treatment patterns for endocrine therapy of breast cancer within an electronic medical record
Q60933652BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2
Q35350825BRCA1 Circos: a visualisation resource for functional analysis of missense variants
Q58289900BRCA1 Facilitates Stress-induced Apoptosis in Breast and Ovarian Cancer Cell Lines
Q37261138BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
Q64039257BRCA1 and BRCA2 Pathogenic Sequence Variants in Women of African Origin or Ancestry
Q37220433BRCA1 and BRCA2 genetic testing-pitfalls and recommendations for managing variants of uncertain clinical significance
Q53412145BRCA1 and BRCA2 have a limited role in familial prostate cancer.
Q57903126BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic
Q73328358BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer
Q74449619BRCA1 testing--advances and retreats
Q56968709BRCA1/2 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
Q36871668BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management
Q38914005BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer
Q37002955BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers
Q35079926BRCA2 and pancreatic cancer
Q71167609BRCA2 germline mutations in male breast cancer cases and breast cancer families
Q30524187BRCA2 localization to the midbody by filamin A regulates cep55 signaling and completion of cytokinesis
Q36763221Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer
Q51715408Bilateral prophylactic oophorectomy and bilateral prophylactic mastectomy in a prospective cohort of unaffected BRCA1 and BRCA2 mutation carriers.
Q46115524Body mass index and breast cancer survival: a Mendelian randomization analysis
Q100457582Breast Cancer Polygenic Risk Score and Contralateral Breast Cancer Risk
Q35925255Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers
Q34327945Breast cancer risk and 6q22.33: combined results from Breast Cancer Association Consortium and Consortium of Investigators on Modifiers of BRCA1/2
Q35940158Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
Q57305977Breast-Cancer Risk in Families With Mutations in PALB2
Q34148873Breast-cancer risk in families with mutations in PALB2
Q100430759Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation
Q43073231CBP truncating mutations in ovarian cancer
Q36449203CHEK2*1100delC heterozygosity in women with breast cancer associated with early death, breast cancer-specific death, and increased risk of a second breast cancer
Q36998293COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration
Q101210788CRM1 inhibitor anti-tumor activity is enhanced with salicylates by S-phase arrest and impaired DNA-damage repair
Q36419325CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer
Q34793437CYP2B6*6 is associated with increased breast cancer risk
Q92005489Cancer Risks Associated With Germline PALB2 Pathogenic Variants: An International Study of 524 Families
Q82606196Cancer risk assessment at the atomic level
Q90907699Cancer susceptibility gene mutations in type I and II endometrial cancer
Q57907575Cancer susceptibility mutations in individuals with breast and ovarian cancer using next-generation sequencing
Q34963894Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers
Q28385765Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk
Q52677836Cardiovascular Concerns in BRCA1 and BRCA2 Mutation Carriers.
Q37401482Cell cycle genes and ovarian cancer susceptibility: a tagSNP analysis
Q35693892Cell-type-specific enrichment of risk-associated regulatory elements at ovarian cancer susceptibility loci
Q34380497Centrosome-related genes, genetic variation, and risk of breast cancer
Q72148601Characterization of 10 new polymorphic dinucleotide repeats and generation of a high-density microsatellite-based physical map of the BRCA1 region of chromosome 17q21
Q24320346Characterization of EZH1, a human homolog of Drosophila Enhancer of zeste near BRCA1
Q96962174Characterization 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)
Q71140973Chromosomal mapping of the rat Slc4a family of anion exchanger genes, Ae1, Ae2, and Ae3
Q73798662Cigarette smoking increases risk for breast cancer in high-risk breast cancer families
Q30485153Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.
Q92097410Classification 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
Q30373569Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.
Q50513952Clinical Decision-Making in Patients with Variant of Uncertain Significance in BRCA1 or BRCA2 Genes.
Q33779220Clinical options for women at high risk for breast cancer
Q55210447Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices.
Q90036958Clinical validity assessment of genes frequently tested on hereditary breast and ovarian cancer susceptibility sequencing panels
Q37117082Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance
Q30992909Collaborative science in the next-generation sequencing era: a viewpoint on how to combine exome sequencing data across sites to identify novel disease susceptibility genes
Q94486442Combined associations of a polygenic risk score and classical risk factors with breast cancer risk
Q37368000Combined 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
Q47703662Common Genetic Variation and Breast Cancer Risk - Past, present, and future
Q36839777Common alleles at 6q25.1 and 1p11.2 are associated with breast cancer risk for BRCA1 and BRCA2 mutation carriers
Q34394665Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction
Q35889575Common 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.
Q35891162Common breast cancer susceptibility loci are associated with triple-negative breast cancer
Q36600605Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk
Q24655824Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers
Q33742096Common genetic variants and modification of penetrance of BRCA2-associated breast cancer
Q34949394Common genetic variation at BARD1 is not associated with breast cancer risk in BRCA1 or BRCA2 mutation carriers
Q35794653Common germline polymorphisms associated with breast cancer-specific survival
Q34379032Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium
Q33947829Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers
Q36393232Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers
Q35870067Common 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
Q37434133Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers
Q34792833Common variants in ZNF365 are associated with both mammographic density and breast cancer risk
Q34213403Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers
Q35815383Common variation in Nemo-like kinase is associated with risk of ovarian cancer
Q31082788Comparison of 6q25 breast cancer hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)
Q28652730Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing
Q89047457Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models
Q36026731Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer
Q34181322Confirmation of 5p12 as a susceptibility locus for progesterone-receptor-positive, lower grade breast cancer
Q39398050Conflicting Interpretation of Genetic Variants and Cancer Risk by Commercial Laboratories as Assessed by the Prospective Registry of Multiplex Testing
Q74243267Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening
Q28302777Construction of a transcription map surrounding the BRCA1 locus of human chromosome 17
Q95292655Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women
Q99408586Contribution of Inherited DNA-Repair Gene Mutations to Hormone-Sensitive and Castrate-Resistant Metastatic Prostate Cancer and Implications for Clinical Outcome
Q34541051Control of BRCA2 cellular and clinical functions by a nuclear partner, PALB2.
Q122925877Correction to: Survival from breast cancer in women with a BRCA2 mutation by treatment
Q57266620Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer
Q45793899Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer.
Q57278898Correction: Comparison of 6q25 Breast Cancer Hits from Asian and European Genome Wide Association Studies in the Breast Cancer Association Consortium (BCAC)
Q91090014Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers
Q33911135Counselling framework for moderate-penetrance cancer-susceptibility mutations
Q30660858Crowdsourcing the General Public for Large Scale Molecular Pathology Studies in Cancer
Q89037078Current Approaches to Cancer Genetic Counseling Services for Spanish-Speaking Patients
Q37000701Cytochrome P450 2D6 and homeobox 13/interleukin-17B receptor: combining inherited and tumor gene markers for prediction of tamoxifen resistance
Q21144874DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers
Q37685729DNA mismatch repair gene MSH6 implicated in determining age at natural menopause
Q35562818Dense and nondense mammographic area and risk of breast cancer by age and tumor characteristics
Q34495985Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
Q34116553Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis
Q71961065Development of donor-derived prostate cancer in a recipient following orthotopic heart transplantation
Q40421335Dinucleotide repeat polymorphism at the D10S178 locus
Q40421342Dinucleotide repeat polymorphism at the D10S179 locus.
Q40507224Dinucleotide repeat polymorphism at the D17S518 locus
Q40507233Dinucleotide repeat polymorphism at the D8S161 locus
Q40507238Dinucleotide repeat polymorphism at the RYR1 locus (19q13.1).
Q52197882Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis.
Q35999183Disseminated Medulloblastoma in a Child with Germline BRCA2 6174delT Mutation and without Fanconi Anemia
Q52675432Does mammographic density mediate risk factor associations with breast cancer? An analysis by tumor characteristics.
Q27671621Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1
Q55110745E-cadherin breast tumor expression, risk factors and survival: Pooled analysis of 5,933 cases from 12 studies in the Breast Cancer Association Consortium.
Q35618857ENIGMA--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
Q47243157ERBB2, TBX2, RPS6KB1, and MYC alterations in breast tissues of BRCA1 and BRCA2 mutation carriers
Q34334131ERβ1: characterization, prognosis, and evaluation of treatment strategies in ERα-positive and -negative breast cancer
Q100490147Effect of germline mutations in homologous recombination repair genes on overall survival of patients with pancreatic adenocarcinoma
Q47614988Effect of pregnancy as a risk factor for breast cancer in BRCA1/BRCA2 mutation carriers
Q36245609Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers
Q77137456Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers
Q42237545Erratum to: Mammographic texture and risk of breast cancer by tumor type and estrogen receptor status
Q47157633Erratum: Author Correction: The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk
Q57250672Erratum: Corrigendum: A common coding variant in CASP8 is associated with breast cancer risk
Q57202568Erratum: Corrigendum: Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk
Q112707371Estrogen receptor beta repurposes EZH2 to suppress oncogenic NFκB/p65 signaling in triple negative breast cancer
Q51766497Etiology of hormone receptor positive breast cancer differs by levels of histologic grade and proliferation.
Q36320751Evaluation 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
Q36890898Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer
Q89996790Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer
Q33614244Evaluation of Polygenic Risk Scores for Breast and Ovarian Cancer Risk Prediction in BRCA1 and BRCA2 Mutation Carriers
Q37481884Evaluation 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).
Q36430014Evaluation of associations between common variation in mitotic regulatory pathways and risk of overall and high grade breast cancer
Q36352389Evaluation of chromosome 6p22 as a breast cancer risk modifier locus in a follow-up study of BRCA2 mutation carriers
Q37745041Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers
Q33894527Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium
Q34806825Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.
Q35653910Evaluation of variation in the phosphoinositide-3-kinase catalytic subunit alpha oncogene and breast cancer risk
Q34613604Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers
Q36720821Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors
Q35064451Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation
Q37342144Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation
Q34408752Exome sequencing identifies FANCM as a susceptibility gene for triple-negative breast cancer
Q33863235Exploring the link between MORF4L1 and risk of breast cancer
Q35999309FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor
Q37594336FGF receptor genes and breast cancer susceptibility: results from the Breast Cancer Association Consortium
Q40676734Familial breast cancer. Approaching the isolation of a susceptibility gene
Q40465630Fanconi anemia complementation group D2 (FANCD2) functions independently of BRCA2- and RAD51-associated homologous recombination in response to DNA damage.
Q53050181Fibroblast growth factor receptor 2 translocations in intrahepatic cholangiocarcinoma.
Q53415457Fifty-year follow-up of cancer incidence in a historical cohort of Minnesota breast cancer families.
Q37236216Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs).
Q36111237Fine-Mapping of the 1p11.2 Breast Cancer Susceptibility Locus
Q36087170Fine-Scale Mapping at 9p22.2 Identifies Candidate Causal Variants That Modify Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers
Q35524465Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2.
Q61230414Fine-mapping of 150 breast cancer risk regions identifies 178 high confidence target genes
Q92480972Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
Q35063160Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk
Q39844032Fine-scale mapping of 8q24 locus identifies multiple independent risk variants for breast cancer
Q36248936Fine-scale mapping of the 4q24 locus identifies two independent loci associated with breast cancer risk
Q34903062Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.
Q37367871Fine-scale mapping of the FGFR2 breast cancer risk locus: putative functional variants differentially bind FOXA1 and E2F1.
Q37002930Five endometrial cancer risk loci identified through genome-wide association analysis
Q34979715Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium
Q89668743Folate receptor alpha expression associates with improved disease-free survival in triple negative breast cancer patients
Q47828874Frequency of mutations in a large series of clinically ascertained ovarian cancer cases tested on multi-gene panels compared to reference controls.
Q41193996Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families
Q48328498From the laboratory to the clinic: sharing BRCA VUS reclassification tools with practicing genetics professionals
Q91404398Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2
Q35775886Functional assays for BRCA1 and BRCA2.
Q37715826Functional assays for analysis of variants of uncertain significance in BRCA2.
Q34116524Functional assays for classification of BRCA2 variants of uncertain significance
Q38637888Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
Q90859747Functional characterization of 84 PALB2 variants of uncertain significance
Q95814860Functional evaluation and cancer risk assessment of BRCA2 unclassified variants
Q36124728Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
Q37369575Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma
Q36742577Functional variants at the 11q13 risk locus for breast cancer regulate cyclin D1 expression through long-range enhancers
Q59565524Gene-Expression–Based Predictors for Breast Cancer
Q40137431Gene-environment interactions involving functional variants: Results from the Breast Cancer Association Consortium
Q36175072Gene-panel sequencing and the prediction of breast-cancer risk
Q38627916Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication
Q28290206Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-q13
Q33589487Genes associated with histopathologic features of triple negative breast tumors predict molecular subtypes
Q37389405Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer
Q90089832Genetic 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
Q34890924Genetic alterations associated with progression from pancreatic intraepithelial neoplasia to invasive pancreatic tumor
Q53396872Genetic analysis of early- versus late-stage ovarian tumors.
Q40952676Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations
Q35909002Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing
Q35836788Genetic epidemiology of BRCA1.
Q34509444Genetic heterogeneity in Peutz-Jeghers syndrome
Q35882332Genetic heterogeneity in hereditary breast cancer: role of BRCA1 and BRCA2.
Q108609948Genetic insights into biological mechanisms governing human ovarian ageing
Q37739048Genetic modifiers of CHEK2*1100delC-associated breast cancer risk
Q29417068Genetic modifiers of menopausal hormone replacement therapy and breast cancer risk: a genome-wide interaction study
Q54940815Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses.
Q92349476Genetic predictors of chemotherapy-related amenorrhea in women with breast cancer
Q35925620Genetic predisposition to ductal carcinoma in situ of the breast
Q35151684Genetic predisposition to in situ and invasive lobular carcinoma of the breast
Q62583135Genetic susceptibility to radiation-induced breast cancer after Hodgkin lymphoma
Q36846498Genetic susceptibility to triple-negative breast cancer
Q35022825Genetic variation at 9p22.2 and ovarian cancer risk for BRCA1 and BRCA2 mutation carriers
Q35179897Genetic variation at CYP3A is associated with age at menarche and breast cancer risk: a case-control study
Q35961713Genetic variation in IGF2 and HTRA1 and breast cancer risk among BRCA1 and BRCA2 carriers
Q37467266Genetic variation in insulin-like growth factor signaling genes and breast cancer risk among BRCA1 and BRCA2 carriers
Q34378972Genetic variation in mitotic regulatory pathway genes is associated with breast tumor grade
Q37131328Genetic variation in stromal proteins decorin and lumican with breast cancer: investigations in two case-control studies
Q37311599Genetic variation in the chromosome 17q23 amplicon and breast cancer risk
Q33889494Genetic variation in the estrogen metabolic pathway and mammographic density as an intermediate phenotype of breast cancer
Q36422109Genetic 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
Q43167965Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants
Q30000080Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent
Q35444584Genetics of the FANCA gene in familial pancreatic cancer
Q28388497Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types
Q36842233Genome-wide association analysis identifies three new breast cancer susceptibility loci
Q35996692Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Q63681757Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer
Q24622610Genome-wide association studies identify four ER negative-specific breast cancer risk loci
Q29417100Genome-wide association study identifies 25 known breast cancer susceptibility loci as risk factors for triple-negative breast cancer
Q95329367Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses
Q35061252Genome-wide association study identifies multiple loci associated with both mammographic density and breast cancer risk
Q24645441Genome-wide association study identifies novel breast cancer susceptibility loci
Q27008356Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk
Q64040390Genome-wide association study of germline variants and breast cancer-specific mortality
Q37242239Genomic Biomarkers for Breast Cancer Risk
Q59566871Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility
Q38823212Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Q81369409Germ line Fanconi anemia complementation group C mutations and pancreatic cancer
Q92109896Germline Genetic Testing for Breast Cancer Risk: The Past, Present, and Future
Q96432094Germline HOXB13 mutations p.G84E and p.R217C do not confer an increased breast cancer risk
Q101220927Germline 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
Q45733546Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women
Q35881432Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study
Q35382206Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers
Q57471595Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study
Q36276540Height and Breast Cancer Risk: Evidence From Prospective Studies and Mendelian Randomization
Q92568416Hereditary Cancer Syndromes-A Primer on Diagnosis and Management, Part 2: Gastrointestinal Cancer Syndromes
Q92568411Hereditary Cancer Syndromes-A Primer on Diagnosis and Management: Part 1: Breast-Ovarian Cancer Syndromes
Q33330850Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics
Q36547888Heterogeneity of luminal breast cancer characterised by immunohistochemical expression of basal markers
Q91571366Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening
Q37121271High-throughput automated scoring of Ki67 in breast cancer tissue microarrays from the Breast Cancer Association Consortium
Q78002659I1307K APC variant in non-Ashkenazi Jewish women affected with breast cancer
Q57903145I1307K APC variant in non‐Ashkenazi Jewish women affected with breast cancer
Q35102646Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk
Q37006170Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31.
Q37532636Identification and validation of an anthracycline/cyclophosphamide-based chemotherapy response assay in breast cancer
Q30252854Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer
Q36465306Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?
Q36720814Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk
Q36062033Identification of a novel percent mammographic density locus at 12q24.
Q47369955Identification of a pyruvate-to-lactate signature in pancreatic intraductal papillary mucinous neoplasms
Q36859142Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
Q36086247Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus
Q28943279Identification of inherited genetic variations influencing prognosis in early-onset breast cancer
Q45952886Identification of molecular subtypes within a formalin-fixed, paraffin-embedded breast cancer tumour cohort.
Q34038964Identification of new genetic susceptibility loci for breast cancer through consideration of gene-environment interactions
Q57170142Identification of nine new susceptibility loci for endometrial cancer
Q36014067Identification of novel genetic markers of breast cancer survival
Q35541663Identification of six new susceptibility loci for invasive epithelial ovarian cancer
Q46103372Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Q100957803Impact of Personalized Genetic Breast Cancer Risk Estimation With Polygenic Risk Scores on Preventive Endocrine Therapy Intention and Uptake
Q91595570Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation
Q50075112Impact of histopathology, tumor-infiltrating lymphocytes, and adjuvant chemotherapy on prognosis of triple-negative breast cancer.
Q39659182Impact that Timing of Genetic Mutation Diagnosis has on Surgical Decision Making and Outcome for BRCA1/BRCA2 Mutation Carriers with Breast Cancer
Q34733426Inactivation of Brca2 promotes Trp53-associated but inhibits KrasG12D-dependent pancreatic cancer development in mice
Q114184688Incorporating progesterone receptor expression into the PREDICT breast prognostic model
Q50156693Increased prevalence of the BRCA2 polymorphic stop codon K3326X among individuals with familial pancreatic cancer.
Q74232945Induction of the BRCA2 promoter by nuclear factor-kappa B
Q37410472Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women
Q34996647Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer
Q57907552Inherited mutations in breast cancer patients with and without multiple primary cancers
Q35104068Inherited variants in the inner centromere protein (INCENP) gene of the chromosomal passenger complex contribute to the susceptibility of ER-negative breast cancer
Q35871175Integrated Genomic Analysis of Pancreatic Ductal Adenocarcinomas Reveals Genomic Rearrangement Events as Significant Drivers of Disease
Q33910123Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2
Q100762144Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance
Q40155925Interaction of mammographic breast density with menopausal status and postmenopausal hormone use in relation to the risk of aggressive breast cancer subtypes
Q34116505International variation in rates of uptake of preventive options in BRCA1 and BRCA2 mutation carriers
Q34081324Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer
Q34898735Investigation of gene-environment interactions between 47 newly identified breast cancer susceptibility loci and environmental risk factors
Q74664770Is BRCA1 associated with familial breast cancer in India?
Q64279327Joint association of mammographic density adjusted for age and body mass index and polygenic risk score with breast cancer risk
Q47190168Joint associations of a polygenic risk score and environmental risk factors for breast cancer in the Breast Cancer Association Consortium
Q92313654Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification
Q57191573Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair
Q28267893Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
Q29416989Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Q33742726Linkage analysis of obesity phenotypes in pre- and post-menopausal women from a United States mid-western population
Q36564941Localization of BRCA1 and a splice variant identifies the nuclear localization signal
Q77303995Localization of PS6K to chromosomal region 17q23 and determination of its amplification in breast cancer
Q72195919Localization of the gene for ATP citrate lyase (ACLY) distal to gastrin(GAS) and proximal to D17S856 on chromosome 17q12-q21
Q28277339Localization of the human homolog of the yeast cell division control 27 gene (CDC27) proximal to ITGB3 on human chromosome 17q21.3
Q36796808Loss of the transcription factor GLI1 identifies a signaling network in the tumor microenvironment mediating KRAS oncogene-induced transformation
Q35119701Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium
Q31043651Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.
Q37590600Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results
Q90540990Male breast cancer in the United States: Treatment patterns and prognostic factors in the 21st century
Q36043843Mammographic breast density and breast cancer: evidence of a shared genetic basis
Q37690341Mammographic density and risk of breast cancer by age and tumor characteristics
Q37476623Mammographic texture and risk of breast cancer by tumor type and estrogen receptor status
Q88572181Management of Breast Cancer Risk in Women with Ovarian Cancer and Deleterious BRCA1 or BRCA2 Mutations
Q112283176Mapping molecular subtype specific alterations in breast cancer brain metastases identifies clinically relevant vulnerabilities
Q92860654Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers
Q114182490Mendelian randomisation study of smoking exposure in relation to breast cancer risk
Q36333368Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.
Q34497352MicroRNA related polymorphisms and breast cancer risk
Q46470461Microarray based expression profiling of BRCA1 mutated human tumours using a breast-specific platform to identify a profile of BRCA1 deficiency
Q37253346Microcephalin regulates BRCA2 and Rad51-associated DNA double-strand break repair
Q34123806Missense variants in ATM in 26,101 breast cancer cases and 29,842 controls
Q35207476Modification of BRCA1-Associated Breast and Ovarian Cancer Risk by BRCA1-Interacting Genes
Q37362211Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers
Q27675971Molecular Basis for the Association of Microcephalin (MCPH1) Protein with the Cell Division Cycle Protein 27 (Cdc27) Subunit of the Anaphase-promoting Complex
Q40052411Molecular basis for estrogen receptor alpha deficiency in BRCA1-linked breast cancer.
Q112642940Molecular markers of risk of subsequent invasive breast cancer in women with ductal carcinoma in situ: protocol for a population-based cohort study
Q58546150Molecular mechanisms linking high body mass index to breast cancer etiology in post-menopausal breast tumor and tumor-adjacent tissues
Q93190763Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes
Q36897003Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer
Q38262388Mutant K-Ras increases GSK-3β gene expression via an ETS-p300 transcriptional complex in pancreatic cancer
Q99585109Mutation Rates in Cancer Susceptibility Genes in Patients With Breast Cancer With Multiple Primary Cancers
Q41674947Mutation analysis of the BRCA1 gene in ovarian cancers.
Q95650235Mutation prevalence tables for hereditary cancer derived from multi-gene panel testing
Q36162179Mutation screening of RAD51C in high-risk breast and ovarian cancer families
Q72052944Mutation screening of dihydropyridine receptor gamma subunit cDNA from malignant hyperthermia susceptible patients
Q49024646Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations.
Q28269064Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers
Q71532382Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core
Q72640314Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer
Q55670933Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
Q71148392Mutations of the BRCA2 gene in ovarian carcinomas
Q37356243Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2.
Q33500353No association between a candidate TCF7L2 variant and risk of breast or ovarian cancer
Q37237352No association of TGFB1 L10P genotypes and breast cancer risk in BRCA1 and BRCA2 mutation carriers: a multi-center cohort study
Q30374367No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer.
Q36393107No evidence for association of inherited variation in genes involved in mitosis and percent mammographic density
Q37308596No evidence that GATA3 rs570613 SNP modifies breast cancer risk
Q37079859No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing
Q39267728Non-BRCA familial breast cancer: review of reported pathology and molecular findings
Q35752042Novel Associations between Common Breast Cancer Susceptibility Variants and Risk-Predicting Mammographic Density Measures
Q36886874Novel patient-derived xenograft mouse model for pancreatic acinar cell carcinoma demonstrates single agent activity of oxaliplatin
Q34172655Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers
Q34705352On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations
Q91524809Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers
Q34162534Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers
Q89927576Ovarian and breast cancer risks associated with pathogenic variants in RAD51C and RAD51D
Q36280191Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers
Q28584533PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS
Q47143943PHIP - a novel candidate breast cancer susceptibility locus on 6q14.1.
Q36184231PREDICT Plus: development and validation of a prognostic model for early breast cancer that includes HER2.
Q32042292PS6K amplification characterizes a small subset of anaplastic meningiomas
Q34289136Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche
Q98652521Pathogenic Variants in Cancer Predisposition Genes and Prostate Cancer Risk in Men of African Ancestry
Q35737888Pathology of breast and ovarian cancers among BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA)
Q37307937Patient survival and tumor characteristics associated with CHEK2:p.I157T - findings from the Breast Cancer Association Consortium
Q90070074Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing
Q36873786Performance of automated scoring of ER, PR, HER2, CK5/6 and EGFR in breast cancer tissue microarrays in the Breast Cancer Association Consortium
Q34477526Pharmacogenetics of tamoxifen biotransformation is associated with clinical outcomes of efficacy and hot flashes
Q36395163Plumbagin inhibits tumorigenesis and angiogenesis of ovarian cancer cells in vivo
Q37021548Poly(ADP-ribose) polymerase-1 down-regulates BRCA2 expression through the BRCA2 promoter
Q62583133Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Q97524107Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
Q37343314Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk
Q35431613Polymorphisms in PTEN in breast cancer families
Q36066735Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression
Q34311315Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study
Q33704900Prediction and assessment of splicing alterations: implications for clinical testing
Q36356727Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores
Q36583004Prediction of breast cancer risk based on profiling with common genetic variants
Q94596762Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML
Q36581642Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients
Q37350137Prognostic value of automated KI67 scoring in breast cancer: a centralised evaluation of 8088 patients from 10 study groups
Q71809714Progress toward Isolation of a Breast Cancer Susceptibility Gene, BRCA1
Q36920323Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging
Q55508030Publisher Correction: Evidence that breast cancer risk at the 2q35 locus is mediated through IGFBP5 regulation.
Q90242034Publisher Correction: Shared heritability and functional enrichment across six solid cancers
Q36512097RAD51 135G-->C modifies breast cancer risk among BRCA2 mutation carriers: results from a combined analysis of 19 studies
Q36009422RAD51B in Familial Breast Cancer
Q101219539Racial and ethnic differences in multigene hereditary cancer panel test results for women with breast cancer
Q30494804Racial disparity in breast cancer and functional germ line mutation in galectin-3 (rs4644): a pilot study
Q36785963Rapid progression of prostate cancer in men with a BRCA2 mutation
Q42672216Rare variants in XRCC2 as breast cancer susceptibility alleles
Q91614061Real-world experiences with acupuncture among breast cancer survivors: a cross-sectional survey study
Q92354907Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
Q35194440Refined genetic localization for central core disease
Q35155449Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia
Q89505894Reply to On the proportion of male breast cancer among all breast cancers
Q45951126Reproductive profiles and risk of breast cancer subtypes: a multi-center case-only study.
Q57269829Response: Table 1
Q89458187Risk of Different Cancers Among First-degree Relatives of Pancreatic Cancer Patients: Influence of Probands' Susceptibility Gene Mutation Status
Q73062975Risk of breast cancer with oral contraceptive use in women with a family history of breast cancer
Q37300024Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042.
Q33527422Risk of ovarian cancer and inherited variants in relapse-associated genes
Q36545934SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival
Q55042194Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 Mutation.
Q36958682Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers
Q61118451Shared heritability and functional enrichment across six solid cancers
Q64004349Shared heritability and functional enrichment across six solid cancers
Q35073076SoftSearch: integration of multiple sequence features to identify breakpoints of structural variations
Q35121513Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary
Q37246207Spontaneous vulvar papillomas in a colony of mice used for pancreatic cancer research.
Q22003975Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells
Q51739138Strong evidence of a genetic determinant for mammographic density, a major risk factor for breast cancer.
Q74114386Structural analysis of the 17q22-23 amplicon identifies several independent targets of amplification in breast cancer cell lines and tumors
Q42463910Subtypes of familial breast tumours revealed by expression and copy number profiling
Q33593016Subtyping 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
Q74409735TBX2 is preferentially amplified in BRCA1- and BRCA2-related breast tumors
Q33566957TP53-based interaction analysis identifies cis-eQTL variants for TP53BP2, FBXO28, and FAM53A that associate with survival and treatment outcome in breast cancer
Q50690518Tagging single nucleotide polymorphisms in cell cycle control genes and susceptibility to invasive epithelial ovarian cancer.
Q81119061Targeted Therapy for BRCA2 Deficient Tumors
Q24306949Tex14, a Plk1-regulated protein, is required for kinetochore-microtubule attachment and regulation of the spindle assembly checkpoint
Q35130683The 17q23 amplicon and breast cancer
Q92608385The Association of Modifiable Breast Cancer Risk Factors and Somatic Genomic Alterations in Breast Tumors: The Cancer Genome Atlas Network
Q38793676The 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
Q49817640The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.
Q91178389The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
Q34115636The KL-VS sequence variant of Klotho and cancer risk in BRCA1 and BRCA2 mutation carriers
Q52673733The Landscape of Somatic Genetic Alterations in Breast Cancers From ATM Germline Mutation Carriers.
Q37578078The OncoArray Consortium: A Network for Understanding the Genetic Architecture of Common Cancers
Q42371653The PALB2 p.Leu939Trp mutation is not associated with breast cancer risk
Q35781316The SNP rs6500843 in 16p13.3 is associated with survival specifically among chemotherapy-treated breast cancer patients
Q35685546The association of copy number variation and percent mammographic density
Q41226231The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds
Q89856001The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort
Q33784408The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk
Q36137764The contributions of breast density and common genetic variation to breast cancer risk
Q35608600The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors
Q34653100The impact of cytochrome P450 2D6 metabolism in women receiving adjuvant tamoxifen
Q36981617The influence of mammogram acquisition on the mammographic density and breast cancer association in the Mayo Mammography Health Study cohort
Q35592084The oncogenic STP axis promotes triple-negative breast cancer via degradation of the REST tumor suppressor
Q57265642The postmenopausal hormone replacement therapy-related breast cancer risk is decreased in women carrying the CYP2C19*17 variant
Q79776058The prevalence of BRCA2 mutations in familial pancreatic cancer
Q35024008The role of KRAS rs61764370 in invasive epithelial ovarian cancer: implications for clinical testing
Q35858233The role of Tbx2 and Tbx3 in mammary development and tumorigenesis
Q36142060The role of genetic breast cancer susceptibility variants as prognostic factors
Q47397232Traceback: A Proposed Framework to Increase Identification and Genetic Counseling of BRCA1 and BRCA2 Mutation Carriers Through Family-Based Outreach
Q36703478Transcript identification in the BRCA1 candidate region
Q89961489Transcriptome-wide association study of breast cancer risk by estrogen-receptor status
Q41645489Transcriptomic and Immunohistochemical Profiling of SLC6A14 in Pancreatic Ductal Adenocarcinoma
Q37325069Trends in mastectomy rates at the Mayo Clinic Rochester: effect of surgical year and preoperative magnetic resonance imaging
Q58797082Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing
Q52574720Truncating variants in p53AIP1 disrupting DNA damage-induced apoptosis are associated with prostate cancer risk.
Q33820594Two decades after BRCA: setting paradigms in personalized cancer care and prevention
Q92994868Two truncating variants in FANCC and breast cancer risk
Q34475484Use of risk-reducing surgeries in a prospective cohort of 1,499 BRCA1 and BRCA2 mutation carriers
Q38342626Utilizing Nottingham Prognostic Index in microarray gene expression profiling of breast carcinomas
Q90169993Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation
Q34099786Variation at 8q24 and 9p24 and risk of epithelial ovarian cancer
Q33636005Variation in genes required for normal mitosis and risk of breast cancer
Q35041278Von Hippel-Lindau gene product directs cytokinesis: a new tumor suppressor function
Q104484001Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer
Q44319466p53 mediates repression of the BRCA2 promoter and down-regulation of BRCA2 mRNA and protein levels in response to DNA damage
Q73351878p73 mutations are not detected in sporadic and hereditary breast cancer
Q37414133rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk

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