Condition: Hereditary Breast and Ovarian Cancer Syndrome


rs1057519364 in ATM gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 26898890 2016 Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

PMID 27067391 2016 A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer.

rs770641163 in ATM;C11orf65 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 26898890 2016 Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

rs587780021 in BARD1 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 21344236 2012 Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

PMID 26075229 2015 Hereditary ovarian cancer: not only BRCA 1 and 2 genes.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 25994375 2015 Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.

PMID 26010302 2016 Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 26315354 2015 Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

PMID 20077502 2010 Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families.

PMID 28050010 2017 Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

PMID 26483394 2016 Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

PMID 28174632 2017 BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

PMID 29292755 2017 Dualistic Role of BARD1 in Cancer.

rs1060502359 in BRCA1 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 20104584 2010 Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.

PMID 22752604 2012 BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity.

PMID 30078507 2018 BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls.

PMID 18489799 2008 Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

PMID 14576433 2003 The BRCT domain is a phospho-protein binding domain.

PMID 11573086 2001 Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1.

PMID 15133503 2004 Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1.

PMID 25652403 2015 Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway.

PMID 8554067 1996 A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families.

PMID 26757417 2016 Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing.

PMID 10486320 1999 The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes.

PMID 12393792 2002 The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons.

PMID 11739404 2001 BRCA1-induced large-scale chromatin unfolding and allele-specific effects of cancer-predisposing mutations.

PMID 27553291 2016 High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients.

PMID 26187060 2016 Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 25452441 2015 Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.

PMID 9150154 1997 Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

PMID 28294317 2017 The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing.

PMID 25927356 2015 Identification of a comprehensive spectrum of genetic factors for hereditary breast cancer in a Chinese population by next-generation sequencing.

PMID 22896685 2012 LRP1B deletion in high-grade serous ovarian cancers is associated with acquired chemotherapy resistance to liposomal doxorubicin.

PMID 21993507 2012 Effects of BRCA1 and BRCA2 mutations on female fertility.

PMID 23704984 2013 Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling.

PMID 12491487 2003 Breast cancer genetics in African Americans.

PMID 27531819 2017 Comprehensive profiling of metaplastic breast carcinomas reveals frequent overexpression of programmed death-ligand 1.

PMID 25823446 2015 Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

PMID 28724667 2017 Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients.

PMID 12402332 2002 A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families.

PMID 11896095 2002 Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.

PMID 20859677 2011 Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families.

PMID 16616110 2006 BRCA1 and BRCA2 mutations in a South American population.

PMID 27433846 2016 Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

PMID 27836010 2016 Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

PMID 10866029 1998 Germline BRCA1 mutations in patients from 84 families with breast and/or ovarian cancers in northern France.

PMID 8807330 1996 Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core.

PMID 16619214 2006 Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression.

PMID 9333265 1997 BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing.

PMID 12815598 2003 A specific GFP expression assay, penetrance estimate, and histological assessment for a putative splice site mutation in BRCA1.

PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.

PMID 17924331 2007 A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.

PMID 11748305 2001 Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

PMID 16683254 2006 A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

PMID 16267036 2005 Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.

PMID 21305653 2011 Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations.

PMID 24549055 2014 Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

PMID 12827452 2003 A mutation analysis of the BRCA1 gene in 140 families from southeast France with a history of breast and/or ovarian cancer.

PMID 24010542 2014 High prevalence of BRCA1 founder mutations in Greek breast/ovarian families.

PMID 23239986 2012 Analysis of 30 putative BRCA1 splicing mutations in hereditary breast and ovarian cancer families identifies exonic splice site mutations that escape in silico prediction.

PMID 11102986 2000 Ten novel BRCA1 and BRCA2 mutations in breast and/or ovarian cancer families from northern Germany.

PMID 23110154 2012 Mutation analysis of BRCA1, BRCA2, PALB2 and BRD7 in a hospital-based series of German patients with triple-negative breast cancer.

PMID 14760071 2004 MYC is amplified in BRCA1-associated breast cancers.

PMID 29446198 2018 Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

PMID 22535016 2012 Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

PMID 11278247 2001 The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation.

PMID 20569256 2010 High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus.

PMID 20507347 2010 The contribution of founder mutations in BRCA1 to breast cancer in Belarus.

PMID 20345474 2010 The contribution of founder mutations in BRCA1 to breast and ovarian cancer in Lithuania.

PMID 20180014 2010 Occult ovarian cancers identified at risk-reducing salpingo-oophorectomy in a prospective cohort of BRCA1/2 mutation carriers.

PMID 15569676 2005 The BRCA1 RING and BRCT domains cooperate in targeting BRCA1 to ionizing radiation-induced nuclear foci.

PMID 18680205 2009 A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance.

PMID 16403807 2006 Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.

PMID 20103620 2010 Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.

PMID 12601471 2003 Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics.

PMID 11320250 2001 Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity.

PMID 19594371 2009 Haplotype of the C61G BRCA1 mutation in Polish and Jewish individuals.

PMID 10788334 2000 Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.

PMID 20683152 2010 BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.

PMID 12810666 2003 Contributions of ATM mutations to familial breast and ovarian cancer.

PMID 16168118 2005 High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area.

PMID 9159158 1997 Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing.

PMID 10945975 2000 BRCA1 physically and functionally interacts with ATF1.

PMID 19543972 2010 Characterization of BRCA1 ring finger variants of uncertain significance.

PMID 23161852 2013 Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.

PMID 14976165 2004 BRCA1 : BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair.

PMID 21324516 2011 Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

PMID 12732733 2003 Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex.

PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.

PMID 11389159 2001 BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age.

PMID 22843421 2012 Mechanisms of BRCA1 tumor suppression.

PMID 7795652 1995 Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.

PMID 7894493 1994 Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.

PMID 9525870 1998 The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain.

PMID 22172724 2011 BRCA1 RING function is essential for tumor suppression but dispensable for therapy resistance.

PMID 21965345 2011 Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.

PMID 21520273 2011 Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.

PMID 21922593 2011 Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.

PMID 21503673 2011 Prevalence of the most frequent BRCA1 mutations in Polish population.

PMID 24728189 2014 The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

PMID 26689913 2015 Patterns and functional implications of rare germline variants across 12 cancer types.

PMID 10984458 2000 Rapid detection of deletion, insertion, and substitution mutations via heteroduplex analysis using capillary- and microchip-based electrophoresis.

PMID 12497638 2003 BRCA1 germline mutations in Indian familial breast cancer.

PMID 24504028 2014 Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

PMID 18413725 2008 Secondary BRCA1 mutations in BRCA1-mutated ovarian carcinomas with platinum resistance.

PMID 21205087 2011 Secondary mutations of BRCA1/2 and drug resistance.

PMID 7894491 1994 Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.

PMID 22009639 2012 Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

PMID 21765009 2012 Single-step capture and sequencing of natural DNA for detection of BRCA1 mutations.

PMID 8990217 1997 Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis.

PMID 11916966 2002 A novel tricomplex of BRCA1, Nmi, and c-Myc inhibits c-Myc-induced human telomerase reverse transcriptase gene (hTERT) promoter activity in breast cancer.

PMID 15923272 2006 Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants.

PMID 17305420 2007 Functional impact of missense variants in BRCA1 predicted by supervised learning.

PMID 11157798 2001 Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families.

PMID 11802208 2002 Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing.

PMID 10737987 2000 Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area.

PMID 18036263 2007 Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

PMID 12955716 2003 Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

PMID 20960228 2011 Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel.

PMID 20516115 2010 Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

PMID 19404736 2010 The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding.

PMID 16758124 2006 High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain).

PMID 17080309 2007 High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia.

PMID 20215541 2010 A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

PMID 9523200 1998 Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer.

PMID 21702907 2011 A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

PMID 26656232 2016 The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil.

PMID 24742220 2014 Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia.

PMID 22399190 2012 Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel.

PMID 22044689 2012 BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia.

PMID 23479189 2013 Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence.

PMID 7939630 1994 BRCA1 mutations in primary breast and ovarian carcinomas.

PMID 21063910 2011 Two BRCA1/2 founder mutations in Jews of Sephardic origin.

PMID 21990134 2012 A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).

PMID 22006311 2011 Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

PMID 24240112 2014 Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

PMID 8933332 1996 Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites.

PMID 16905680 2007 Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer.

PMID 23621881 2014 Screening for BRCA1 and BRCA2 mutations among French-Canadian breast cancer cases attending an outpatient clinic in Montreal.

PMID 25884701 2015 A targeted analysis identifies a high frequency of BRCA1 and BRCA2 mutation carriers in women with ovarian cancer from a founder population.

PMID 28503720 2017 Contribution of germline mutations in cancer predisposition genes to tumor etiology in young women diagnosed with invasive breast cancer.

PMID 22739995 2012 Recurrent BRCA1 and BRCA2 mutations in breast cancer patients of African ancestry.

PMID 22848303 2011 Novel BRCA1 deleterious mutation (c.1949_1950delTA) in a woman of Senegalese descent with triple-negative early-onset breast cancer.

PMID 9150149 1997 BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group.

PMID 21120943 2011 EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

PMID 10417303 1999 Evidence for a BRCA1 founder mutation in families of West African ancestry.

PMID 21913181 2012 Earlier age of onset of BRCA mutation-related cancers in subsequent generations.

PMID 17591843 2007 Founder mutations in BRCA1 and BRCA2 genes.

PMID 22762150 2012 Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).

PMID 26681312 2016 Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

PMID 24729269 2014 BRCA1 point mutations in premenopausal breast cancer patients from Central Sudan.

PMID 30209399 2018 Accurate classification of BRCA1 variants with saturation genome editing.

PMID 28781887 2016 Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

PMID 29470806 2018 Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations.

PMID 14648706 2004 Polyglutamine repeat length in the AIB1 gene modifies breast cancer susceptibility in BRCA1 carriers.

PMID 25248401 2015 A clinical and genetic analysis of multiple primary cancer referrals to genetics services.

PMID 20167696 2010 Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.

PMID 16287141 2005 Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers.

PMID 24916970 2015 The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

PMID 16826315 2006 BRCA1 and BRCA2 germline mutational spectrum and evidence for genetic anticipation in Portuguese breast/ovarian cancer families.

PMID 18403564 2008 Rapid and sensitive detection of BRCA1/2 mutations in a diagnostic setting: comparison of two high-resolution melting platforms.

PMID 23034506 2012 Molecular analysis of the breast cancer genes BRCA1 and BRCA2 using amplicon-based massive parallel pyrosequencing.

PMID 22425665 2012 BRCA1 and BRCA2 germline mutations in Moroccan breast/ovarian cancer families: novel mutations and unclassified variants.

PMID 22970155 2012 Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

PMID 24824628 2015 Cisplatin and gemcitabine as the first line therapy in metastatic triple negative breast cancer.

PMID 24312913 2013 A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

PMID 10644434 1999 Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations.

PMID 22798144 2012 Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

PMID 22923021 2012 Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families.

PMID 16998791 2006 Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients.

PMID 25863477 2015 The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study.

PMID 29673794 2018 Difference in Risk of Breast and Ovarian Cancer According to Putative Functional Domain Regions in Korean BRCA1/2 Mutation Carriers.

PMID 15887246 2005 Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France.

PMID 23451180 2013 Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations.

PMID 28873162 2017 Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.

PMID 22434525 2012 Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study.

PMID 10811118 2000 Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation.

PMID 19016756 2008 Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer.

PMID 16455195 2007 BRCA1 and BRCA2 germline mutations in Korean breast cancer patients at high risk of carrying mutations.

PMID 26402875 2015 Germline Mutations of BRCA1 and BRCA2 in Korean Ovarian Cancer Patients: Finding Founder Mutations.

PMID 15365993 2004 BRCA1 and BRCA2 germline mutations in Korean patients with sporadic breast cancer.

PMID 22382806 2012 Prevalence of BRCA1 and BRCA2 mutations in non-familial breast cancer patients with high risks in Korea: the Korean Hereditary Breast Cancer (KOHBRA) Study.

PMID 28111427 2017 Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.

PMID 12453858 2002 BRCA1 and BRCA2 germline mutations in Sardinian breast cancer families and their implications for genetic counseling.

PMID 16047344 2005 Spectrum and prevalence of BRCA1 and BRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening.

PMID 23192404 2013 Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer.

PMID 24137399 2013 A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report.

PMID 28127413 2017 Hereditary cancer syndromes in Latino populations: genetic characterization and surveillance guidelines.

PMID 25136594 2014 Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

PMID 23683081 2013 Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).

PMID 26028024 2016 Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations.

PMID 16417652 2006 BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families.

PMID 18821011 2009 Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy.

PMID 23233716 2013 Prevalence and type of BRCA mutations in Hispanics undergoing genetic cancer risk assessment in the southwestern United States: a report from the Clinical Cancer Genetics Community Research Network.

PMID 15883839 2005 Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families.

PMID 16030099 2005 Prevalence of BRCA mutations and founder effect in high-risk Hispanic families.

PMID 9625424 1998 Double heterozygosity for mutations in the BRCA1 and BRCA2 genes in a breast cancer patient.

PMID 8571953 1996 Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study.

PMID 20694749 2010 Comprehensive BRCA1 and BRCA2 mutation analyses and review of French Canadian families with at least three cases of breast cancer.

PMID 7493024 1995 Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.

PMID 9792861 1998 Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families.

PMID 19329713 2009 Age-dependent penetrance of different germline mutations in the BRCA1 gene.

PMID 19863560 2009 The contribution of founder mutations to early-onset breast cancer in French-Canadian women.

PMID 17221156 2007 BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses.

PMID 8533757 1995 Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families.

PMID 19656415 2009 Molecular genetics analysis of hereditary breast and ovarian cancer patients in India.

PMID 15726418 2005 BRCA1 variants in a family study of African-American and Latina women.

PMID 21203900 2011 Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia.

PMID 19241424 2009 BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

PMID 11250694 2000 Founder populations and their uses for breast cancer genetics.

PMID 15951958 2005 A high frequency of germline BRCA1/2 mutations in western Sweden detected with complementary screening techniques.

PMID 10422801 1999 Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history.

PMID 10682662 2000 The prevalence of BRCA1 mutations in Chinese patients with early onset breast cancer and affected relatives.

PMID 15133502 2004 Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.

PMID 14534301 2003 Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.

PMID 30458859 2018 Trans-activation-based risk assessment of BRCA1 BRCT variants with unknown clinical significance.

PMID 28490613 2018 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.

PMID 15290653 2004 Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

PMID 16489001 2006 Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

PMID 19563646 2009 A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example.

PMID 17308087 2007 Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis.

PMID 27495310 2017 Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.

PMID 20455026 2010 Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.

PMID 28283652 2017 BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

PMID 30257991 2019 Combining Homologous Recombination and Phosphopeptide-binding Data to Predict the Impact of BRCA1 BRCT Variants on Cancer Risk.

PMID 22889855 2012 BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk.

PMID 22505045 2012 Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.

PMID 21946536 2011 Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155.

PMID 15172985 2004 Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition.

PMID 21473589 2011 Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.

PMID 19200354 2009 A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.

PMID 11504767 2001 Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer.

PMID 20378548 2010 Toward classification of BRCA1 missense variants using a biophysical approach.

PMID 11410501 2001 Diagnostic strategy for analytical scanning of BRCA1 gene by fluorescence-assisted mismatch analysis using large, bifluorescently labeled amplicons.

PMID 21666281 2011 Mutations in the BRCT binding site of BRCA1 result in hyper-recombination.

PMID 22753008 2012 A guide for functional analysis of BRCA1 variants of uncertain significance.

PMID 19493677 2009 Characterisation of gene expression profiles of yeast cells expressing BRCA1 missense variants.

PMID 22034289 2012 High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.

PMID 7545954 1994 A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.

PMID 18285836 2008 Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.

PMID 22010008 2011 Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women.

PMID 8942979 1996 Evidence for a transcriptional activation function of BRCA1 C-terminal region.

PMID 19491284 2009 Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups.

PMID 22144684 2012 Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

PMID 16452482 2006 ATM activation by ionizing radiation requires BRCA1-associated BAAT1.

PMID 16101277 2005 Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex.

PMID 14576432 2003 BRCT repeats as phosphopeptide-binding modules involved in protein targeting.

PMID 15125843 2004 Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling.

PMID 12427738 2003 Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.

PMID 12400015 2002 Direct interaction between BRCA1 and the estrogen receptor regulates vascular endothelial growth factor (VEGF) transcription and secretion in breast cancer cells.

PMID 15235020 2004 Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

PMID 15689452 2005 Classification of BRCA1 missense variants of unknown clinical significance.

PMID 9667259 1998 Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk.

PMID 19949876 2010 Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection.

PMID 16782705 2006 BRCA1 interacts with poly(A)-binding protein: implication of BRCA1 in translation regulation.

PMID 20727672 2010 Non-founder BRCA1 mutations in Russian breast cancer patients.

PMID 18375895 2008 Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators.

PMID 18465347 2008 BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer.

PMID 16644204 2006 BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives.

PMID 20051372 2010 Altered gene expression in morphologically normal epithelial cells from heterozygous carriers of BRCA1 or BRCA2 mutations.

PMID 17688236 2007 Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer.

PMID 11802209 2002 Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

PMID 16528604 2006 BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families.

PMID 12960223 2003 Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families.

PMID 12360400 2002 BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains.

PMID 26913838 2016 Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.

PMID 15385441 2004 Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition.

PMID 23580280 2013 BRCA1: a missing link in the Fanconi anemia/BRCA pathway.

PMID 26786923 2016 Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.

PMID 23269703 2013 Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

PMID 26219728 2016 Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.

PMID 30055521 2018 Subsequent breast and high grade serous carcinomas after risk-reducing salpingo-oophorectomy in BRCA mutation carriers and patients with history of breast cancer.

PMID 25748678 2015 Protein stability versus function: effects of destabilizing missense mutations on BRCA1 DNA repair activity.

PMID 31347298 2019 Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia-like phenotype, and no chromosome fragility.

PMID 30765603 2019 Impact of amino acid substitutions at secondary structures in the BRCT domains of the tumor suppressor BRCA1: Implications for clinical annotation.

PMID 21447777 2011 A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.

PMID 25472942 2015 Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

PMID 29712865 2018 Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.

PMID 31341520 2019 Age-adjusted association of homologous recombination genes with ovarian cancer using clinical exomes as controls.

PMID 17574969 2007 Association of the BRCA1 missense variant R1699W with a malignant phyllodes tumor of the breast.

PMID 21356067 2011 Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

PMID 28265380 2017 "A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer."

PMID 19287957 2009 Characterization of the c.190T>C missense mutation in BRCA1 codon 64 (Cys64Arg).

PMID 18418466 2005 Classification of Missense Mutations of Disease Genes.

PMID 8944023 1996 Identification of a RING protein that can interact in vivo with the BRCA1 gene product.

PMID 15131401 2004 BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect.

PMID 11526114 2001 BRCA1 RING domain cancer-predisposing mutations. Structural consequences and effects on protein-protein interactions.

PMID 25085752 2014 Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

PMID 11015464 2000 Low frequency of microsatellite instability in BRCA1 mutated breast tumours.

PMID 23397983 2014 Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening.

PMID 26911350 2016 Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.

PMID 9452076 1998 Three novel germline BRCA1 mutations in early-onset breast and ovarian cancer families.

PMID 24333842 2014 Outcome of unexpected adnexal neoplasia discovered during risk reduction salpingo-oophorectomy in women with germ-line BRCA1 or BRCA2 mutations.

PMID 18159056 2007 Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups.

PMID 12181777 2002 Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

PMID 22711857 2012 BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group.

PMID 25371446 2015 Recurrent BRCA1 and BRCA2 mutations in Mexican women with breast cancer.

PMID 16162645 2006 Lymphocytes of BRCA1 and BRCA2 germ-line mutation carriers, with or without breast cancer, are not abnormally sensitive to the chromosome damaging effect of moderate folate deficiency.

PMID 25682074 2015 Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

PMID 15955237 2005 Haploinsufficiency for BRCA1 is associated with normal levels of DNA nucleotide excision repair in breast tissue and blood lymphocytes.

PMID 23961350 2012 BRCA1 And BRCA2 analysis of Argentinean breastovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 23536787 2013 Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases.

PMID 12402341 2002 Clustering of variations and haplotype analysis in the highly variable region of exon 11 of BRCA1 in Chinese women with sporadic breast cancer.

PMID 15865297 2005 [Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg].

PMID 12655560 2003 Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients.

PMID 17453335 2008 Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients.

PMID 26315209 2015 CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting.

PMID 23982851 2014 Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC).

PMID 18757339 2008 Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain.

PMID 12496477 2003 Mutations in the BRCT domain confer temperature sensitivity to BRCA1 in transcription activation.

PMID 25948282 2015 New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

PMID 26543556 2015 Addressing health disparities in Hispanic breast cancer: accurate and inexpensive sequencing of BRCA1 and BRCA2.

PMID 25628955 2015 Clinical and pathological characteristics of Hispanic BRCA-associated breast cancers in the American-Mexican border city of El Paso, TX.

PMID 21614564 2012 Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer.

PMID 27272900 2016 Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.

PMID 9796975 1998 Frequency of germline and somatic BRCA1 mutations in ovarian cancer.

PMID 18512148 2009 BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer.

PMID 21769658 2012 Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.

PMID 25724305 2015 Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic.

PMID 19147582 2009 High frequency of TP53 mutation in BRCA1 and sporadic basal-like carcinomas but not in BRCA1 luminal breast tumors.

PMID 14647443 2004 Fidelity of DNA double-strand break repair in heterozygous cell lines harbouring BRCA1 missense mutations.

PMID 12759930 2003 Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

PMID 29907814 2018 The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

PMID 10755399 2000 Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families.

PMID 11149413 2001 Spanish family study on hereditary breast and/or ovarian cancer: analysis of the BRCA1 gene.

PMID 11979449 2002 Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer.

PMID 17262179 2007 Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

PMID 26780556 2016 Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.

PMID 20513136 2010 Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.

PMID 12491499 2003 Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers.

PMID 23210696 2012 Association of radiotherapy with preferential depletion of luminal epithelial cells in a BRCA1 mutation carrier.

PMID 18312450 2008 Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families.

PMID 23725378 2014 Linking distant relatives with BRCA gene mutations: potential for cost savings.

PMID 26052229 2015 Effects of Radiation Therapy on Breast Epithelial Cells in BRCA1/2 Mutation Carriers.

PMID 29936257 2018 Validation and Implementation of BRCA1/2 Variant Screening in Ovarian Tumor Tissue.

PMID 27273131 2016 Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

PMID 29997359 2018 Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine.

PMID 27208206 2016 New paradigms for BRCA1/BRCA2 testing in women with ovarian cancer: results of the Genetic Testing in Epithelial Ovarian Cancer (GTEOC) study.

PMID 10923033 2000 The breast cancer information core: database design, structure, and scope.

PMID 27082205 2016 Identification of novel BRCA founder mutations in Middle Eastern breast cancer patients using capture and Sanger sequencing analysis.

PMID 25834617 2015 Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1.

PMID 19656164 2009 Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation.

PMID 9497265 1998 A BRCA1 nonsense mutation causes exon skipping.

PMID 20373018 2010 Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics.

PMID 18763032 2009 Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania.

PMID 23199084 2010 Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

PMID 18783588 2008 Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

PMID 21232165 2011 The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population.

PMID 8644702 1996 Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden.

PMID 21989927 2012 Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy.

PMID 25330149 2015 Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

PMID 9663595 1998 BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics.

PMID 7837387 1995 A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening.

PMID 26852130 2016 Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

PMID 26083025 2015 Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.

PMID 15876480 2006 BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain.

PMID 15024741 2004 BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.

PMID 12566964 2003 Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic.

PMID 17645508 2008 Prolonged survival among women with BRCA germline mutations and advanced endometrial cancer: a case series.

PMID 25480878 2015 Prevalence of BRCA1 mutations and responses to neoadjuvant chemotherapy among BRCA1 carriers and non-carriers with triple-negative breast cancer.

PMID 27393621 2016 Comprehensive analysis of BRCA1 and BRCA2 germline mutations in a large cohort of 5931 Chinese women with breast cancer.

PMID 24516540 2014 Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.

PMID 21863257 2011 BRCA1 R71K missense mutation contributes to cancer predisposition by increasing alternative transcript levels.

PMID 26956035 2016 Incidence of BRCA1 somatic mutations and response to neoadjuvant chemotherapy in Chinese women with triple-negative breast cancer.

PMID 27802165 2016 Yeast cells reveal the misfolding and the cellular mislocalization of the human BRCA1 protein.

PMID 24845084 2014 Probing structure-function relationships in missense variants in the carboxy-terminal region of BRCA1.

PMID 22855649 2012 Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.

PMID 9150151 1997 A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families.

PMID 8723683 1996 Mutations in the BRCA1 gene in Japanese breast cancer patients.

PMID 24719479 2014 Here, we report the first case of serous tubal intraepithelial carcinoma identified through a risk-reducing salpingo-oophorectomy in a Japanese woman with hereditary breast and ovarian cancer syndrome and who had a deleterious germline mutation of E1214X in BRCA1, but not a BRCA2 mutation.

PMID 17851763 2008 The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified.

PMID 11506493 2001 Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features.

PMID 22776961 2012 Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy.

PMID 19370767 2009 Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.

PMID 11149425 2001 Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families.

PMID 18284688 2008 Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.

PMID 15340362 2004 Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations.

PMID 21553119 2012 Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing.

PMID 21559243 2011 Breast and Ovarian Cancer Risk due to Prevalence of BRCA1 and BRCA2 Variants in Pakistani Population: A Pakistani Database Report.

PMID 17591842 2007 High prevalence of BRCA1 deletions in BRCAPRO-positive patients with high carrier probability.

PMID 23519070 2012 Seventeen years after BRCA1: what is the BRCA mutation status of the breast cancer patients in Africa? - a systematic review.

PMID 18679828 2009 Evidence for an ancient BRCA1 mutation in breast cancer patients of Yoruban ancestry.

PMID 21918854 2012 BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients.

PMID 23113073 2011 Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer.

PMID 17902052 2008 G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history.

PMID 15353005 2004 Characterization of a novel large deletion and single point mutations in the BRCA1 gene in a Greek cohort of families with suspected hereditary breast cancer.

PMID 7663517 1995 Rapid detection of BRCA1 mutations by the protein truncation test.

PMID 16615107 2006 Low prevalence of (pre) malignant lesions in the breast and high prevalence in the ovary and Fallopian tube in women at hereditary high risk of breast and ovarian cancer.

PMID 8968102 1996 Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families.

PMID 28263838 2017 Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.

PMID 30254663 2018 Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?

PMID 28324225 2017 Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

PMID 16528612 2006 Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain.

PMID 27741520 2016 Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

PMID 17005433 2007 Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation.

PMID 19996028 2010 Association of BRCA1 mutations with occult primary ovarian insufficiency: a possible explanation for the link between infertility and breast/ovarian cancer risks.

PMID 22713736 2012 Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon.

PMID 24131973 2013 BRCA mutations and outcome in epithelial ovarian cancer (EOC): experience in ethnically diverse groups.

PMID 12204006 2002 Germline mutations of BRCA1 and BRCA2 in Korean breast and/or ovarian cancer families.

PMID 24884479 2014 Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.

PMID 17925560 2007 BRCA1 and BRCA2 genetic testing in Hispanic patients: mutation prevalence and evaluation of the BRCAPRO risk assessment model.

PMID 27157322 2016 Detection of Germline Mutation in Hereditary Breast and/or Ovarian Cancers by Next-Generation Sequencing on a Four-Gene Panel.

PMID 26022348 2015 HBOC multi-gene panel testing: comparison of two sequencing centers.

PMID 12048272 2002 Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO.

PMID 20609467 2010 Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial.

PMID 19941162 2010 High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.

PMID 25880076 2015 BRCA1 germline mutation and glioblastoma development: report of cases.

PMID 11597388 2001 Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families.

PMID 21465171 2011 Significant differences among physician specialties in management recommendations of BRCA1 mutation carriers.

PMID 18824701 2008 Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.

PMID 9760198 1998 A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.

PMID 12700893 2003 The association of the R219K polymorphism in the ATP-binding cassette transporter 1 ( ABCA1) gene with coronary heart disease and hyperlipidaemia.

PMID 10528853 1999 A highly accurate, low cost test for BRCA1 mutations.

PMID 26833046 2016 BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population.

PMID 25151137 2015 Detection of inherited mutations for hereditary cancer using target enrichment and next generation sequencing.

PMID 11920621 2002 BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines.

PMID 22460208 2010 Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2.

PMID 11857748 2002 Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain.

PMID 25066507 2014 Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania.

PMID 11938448 2002 BRCA mutations in Italian breast/ovarian cancer families.

PMID 16284991 2005 BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases.

PMID 27376475 2016 Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

PMID 11595708 2001 Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population.

PMID 12879478 2003 Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado.

PMID 22277901 2012 Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.

PMID 23320992 2013 Early onset breast cancer in a registry-based sample of African-american women: BRCA mutation prevalence, and other personal and system-level clinical characteristics.

PMID 25980754 2015 Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

PMID 18992264 2009 Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.

PMID 19706752 2009 Multimodal assessment of protein functional deficiency supports pathogenicity of BRCA1 p.V1688del.

PMID 18703817 2008 The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families.

PMID 24772314 2014 Next-generation sequencing of BRCA1 and BRCA2 in breast cancer patients and control subjects.

PMID 21990165 2012 Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

PMID 9808526 1998 Low incidence of BRCA1 mutations among Italian families with breast and ovarian cancer.

PMID 11106241 2000 BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers.

PMID 12915465 2003 Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model.

PMID 26250392 2015 Deleterious BRCA1/2 mutations in an urban population of Black women.

PMID 25186627 2015 Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel.

PMID 16140926 2005 Distinct genomic profiles in hereditary breast tumors identified by array-based comparative genomic hybridization.

PMID 18066063 2008 Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair.

PMID 9042907 1997 Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes?

PMID 15004537 2004 Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay.

PMID 12354934 2002 Molecular evidence for putative tumour suppressor genes on chromosome 13q specific to BRCA1 related ovarian and fallopian tube cancer.

PMID 23318652 2013 Hereditary breast cancer in the Han Chinese population.

PMID 11810084 2002 Fallopian tube cancer in a BRCA1 mutation carrier: rapid development and failure of screening.

PMID 25802882 2015 Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.

PMID 10389907 1999 Reduction of BRCA1 protein expression in Japanese sporadic breast carcinomas and its frequent loss in BRCA1-associated cases.

PMID 7627958 1995 Germline mutation of BRCA1 in Japanese breast cancer families.

PMID 15168169 2004 Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families.

PMID 26439132 2016 BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer.

PMID 24249303 2015 Prevalence and differentiation of hereditary breast and ovarian cancers in Japan.

PMID 20215423 2010 Wild-type BRCA1, but not mutated BRCA1, regulates the expression of the nuclear form of beta-catenin.

PMID 22476429 2012 Mutation screening of RAD51C in high-risk breast and ovarian cancer families.

PMID 23704879 2013 Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

PMID 11304778 2001 Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic.

PMID 11493753 2001 The Tyr978X BRCA1 Mutation in Non-Ashkenazi Jews: Occurrence in High-Risk Families, General Population and Unselected Ovarian Cancer Patients.

PMID 11179017 2001 Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

PMID 15951957 2005 The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews.

PMID 17148771 2006 Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.

PMID 9667663 1998 An identical novel mutation in BRCA1 and a common haplotype in familial ovarian cancer in non-Ashkenazi Jews.

PMID 25366421 2015 Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.

PMID 22652532 2012 Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms.

PMID 11436123 2001 BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients.

PMID 9361038 1997 Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes.

PMID 26843898 2016 Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland.

PMID 25428789 2015 Inherited predisposition to breast cancer among African American women.

PMID 12142080 2002 Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed.

PMID 12672316 2003 Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.

PMID 12673801 2003 BRCA1 and BRCA2 mutation analysis in breast-ovarian cancer families from northeastern Poland.

PMID 25556971 2015 Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer.

PMID 21309043 2011 Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

PMID 7611277 1995 Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer.

PMID 21895635 2012 BRCA1 and BRCA2 mutations among familial breast cancer patients from Costa Rica.

PMID 11556835 2001 Detection of germline BRCA1 mutations by Multiple-Dye Cleavase Fragment Length Polymorphism (MD-CFLP) method.

PMID 19377795 2009 Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil.

PMID 15781624 2005 Loss of the inactive X chromosome and replication of the active X in BRCA1-defective and wild-type breast cancer cells.

PMID 9746028 1998 p53 mutations in BRCA1-associated familial breast cancer.

PMID 8602198 1996 Breast cancer and BRCA1 mutations.

PMID 28944232 2017 Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.

PMID 27331142 2016 Efficacy of amelogenin-chitosan hydrogel in biomimetic repair of human enamel in pH-cycling systems.

PMID 29255180 2017 Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.

PMID 11927492 2002 Variation in BRCA1 cancer risks by mutation position.

PMID 17826769 2007 CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes.

PMID 14614327 2004 Lack of HIN-1 methylation defines specific breast tumor subtypes including medullary carcinoma of the breast and BRCA1-linked tumors.

PMID 12360411 2002 Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families.

PMID 26052455 2015 Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing.

PMID 25348012 2014 Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

PMID 28122244 2017 Distinct Brca1 Mutations Differentially Reduce Hematopoietic Stem Cell Function.

PMID 17063270 2007 Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil.

PMID 29088781 2017 BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile.

PMID 9362443 1997 Novel BRCA1 mutations and more frequent intron-20 alteration found among 236 women from Western Poland.

PMID 10804288 2000 Screening of BRCA1 mutation using immunohistochemical staining with C-terminal and N-terminal antibodies in familial ovarian cancers.

PMID 15800311 2005 Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation.

PMID 21080930 2010 Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers.

PMID 15829246 2005 Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1.

PMID 11139249 2001 Frequency of BRCA1 and BRCA2 mutations in a clinic-based series of breast and ovarian cancer families.

PMID 26845104 2016 Improving performance of multigene panels for genomic analysis of cancer predisposition.

PMID 24448499 2014 Integrated analysis of germline and somatic variants in ovarian cancer.

PMID 25400221 2014 BRCA1 haploinsufficiency for replication stress suppression in primary cells.

PMID 22430266 2012 Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

PMID 25646469 2015 Aberrant recombination and repair during immunoglobulin class switching in BRCA1-deficient human B cells.

PMID 26976419 2016 Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer.

PMID 26852015 2016 Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.

PMID 23996866 2013 BRCA1 gene Molecular Alterations in Omani Breast Cancer Patients.

PMID 23958087 2014 Analysis of several BRCA1 and BRCA2 mutations in a hospital-based series of unselected breast cancer cases.

PMID 11870168 2002 Outcome of preventive surgery and screening for breast and ovarian cancer in BRCA mutation carriers.

PMID 12655515 2003 Epithelial lesions in prophylactic mastectomy specimens from women with BRCA mutations.

PMID 11773283 2002 Frequency of BRCA1 dysfunction in ovarian cancer.

PMID 17233897 2007 A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer.

PMID 8531967 1996 BRCA1 mutations in a population-based sample of young women with breast cancer.

PMID 16760289 2006 BRCA1 and BRCA2 genetic testing in Italian breast and/or ovarian cancer families: mutation spectrum and prevalence and analysis of mutation prediction models.

PMID 9799248 1998 Structure of an XRCC1 BRCT domain: a new protein-protein interaction module.

PMID 20526115 2010 Nursing welcome mat to the hospital, an advanced practice nurse's responsibility.

PMID 17493881 2007 Thermal unfolding of human BRCA1 BRCT-domain variants.

PMID 10946236 2000 The BRCA1 C-terminal domain: structure and function.

PMID 19452558 2009 Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets.

PMID 24489791 2014 Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.

PMID 15382066 2004 Significant proportion of breast and/or ovarian cancer families of French Canadian descent harbor 1 of 5 BRCA1 and BRCA2 mutations.

PMID 23522120 2013 Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient.

PMID 11733976 2001 BRCA1 germline mutations and polymorphisms in a clinic-based series of ovarian cancer cases: a Gynecologic Oncology Group study.

PMID 15026808 2004 BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families.

PMID 15799620 2004 Chromosomal radiosensitivity in BRCA1 and BRCA2 mutation carriers.

PMID 26541979 2016 Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 19267246 2010 The silent mutation nucleotide 744 G --> A, Lys172Lys, in exon 6 of BRCA2 results in exon skipping.

PMID 11606101 2001 Germline BRCA1-2 mutations in non-Ashkenazi families with double primary breast and ovarian cancer.

PMID 12920083 2003 Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies.

PMID 23096355 2012 BRCA1 and BRCA2 mutations in breast cancer patients from Venezuela.

PMID 22811390 2013 BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

PMID 27974384 2017 BRCA Testing by Single-Molecule Molecular Inversion Probes.

PMID 21725363 2012 Functional differences among BRCA1 missense mutations in the control of centrosome duplication.

PMID 12014998 2002 Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula.

PMID 11385711 2001 The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript.

PMID 10508480 1999 BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families.

PMID 19123044 2009 Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin.

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PMID 22962691 2012 Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.

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PMID 30883759 2019 Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.

PMID 25504618 2015 Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice.

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PMID 19353265 2009 A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer.

PMID 21184276 2011 A BRCA2 mutation incorrectly mapped in the original BRCA2 reference sequence, is a common West Danish founder mutation disrupting mRNA splicing.

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PMID 18712473 2009 The variants BRCA1 IVS6-1G>A and BRCA2 IVS15+1G>A lead to aberrant splicing of the transcripts.

PMID 16489001 2006 Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance.

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PMID 12145750 2002 BRCA2 T2722R is a deleterious allele that causes exon skipping.

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PMID 28339459 2017 Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.

PMID 18424508 2008 Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene.

PMID 15290653 2004 Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.

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PMID 18597679 2008 Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

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PMID 18783588 2008 Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families.

PMID 25366421 2015 Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing.

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PMID 17200671 2007 Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer.

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rs764896402 in RAD51B gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 26898890 2016 Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations.

rs1060502601 in RAD51C gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

PMID 29922827 2018 Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer.

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PMID 25154786 2015 Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.

PMID 29409816 2018 Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain).

PMID 28829762 2017 Characterisation of the novel deleterious RAD51C p.Arg312Trp variant and prioritisation criteria for functional analysis of RAD51C missense changes.

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rs370228071 in RAD51D;RAD51L3-RFFL gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 22986143 2012 Loss of function germline mutations in RAD51D in women with ovarian carcinoma.

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PMID 24139550 2013 Germline mutation in the RAD51B gene confers predisposition to breast cancer.

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PMID 24240112 2014 Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.

PMID 24130102 2014 About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.

PMID 26057125 2015 Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic.

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PMID 26261251 2015 Contribution of Germline Mutations in the RAD51B, RAD51C, and RAD51D Genes to Ovarian Cancer in the Population.

rs387906843 in RAD51L3-RFFL;RAD51D gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 25445424 2015 Breast cancer in a RAD51D mutation carrier: case report and review of the literature.

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rs1555526469 in TP53 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 21514416 2011 Tissue microarray cytometry reveals positive impact of homeodomain interacting protein kinase 2 in colon cancer survival irrespective of p53 function.

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