Gene: BRCA1

Alternate names for this Gene: BRCAI|BRCC1|BROVCA1|FANCS|IRIS|PNCA4|PPP1R53|PSCP|RNF53

Gene Summary: This gene encodes a 190 kD nuclear phosphoprotein that plays a role in maintaining genomic stability, and it also acts as a tumor suppressor. The BRCA1 gene contains 22 exons spanning about 110 kb of DNA. The encoded protein combines with other tumor suppressors, DNA damage sensors, and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). This gene product associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. This protein thus plays a role in transcription, DNA repair of double-stranded breaks, and recombination. Mutations in this gene are responsible for approximately 40% of inherited breast cancers and more than 80% of inherited breast and ovarian cancers. Alternative splicing plays a role in modulating the subcellular localization and physiological function of this gene. Many alternatively spliced transcript variants, some of which are disease-associated mutations, have been described for this gene, but the full-length natures of only some of these variants has been described. A related pseudogene, which is also located on chromosome 17, has been identified.

Gene is located in Chromosome: 17

Location in Chromosome : 17q21.31

Description of this Gene: BRCA1 DNA repair associated

Type of Gene: protein-coding

rs1799949 in BRCA1 gene and Age at menarche PMID 29773799 2018 Elucidating the genetic architecture of reproductive ageing in the Japanese population.

rs1799949 in BRCA1 gene and Age at menopause PMID 26414677 2015 Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

rs1057517637 in BRCA1 gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 PMID 10811118 2000 Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation.

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 31131967 2019 Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

PMID 27756336 2016 Identification of BRCA1-like triple-negative breast cancers by quantitative multiplex-ligation-dependent probe amplification (MLPA) analysis of BRCA1-associated chromosomal regions: a validation study.

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

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

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

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

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

PMID 24366402 2014 Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force.

PMID 25394175 2015 A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 23188549 2013 NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer.

PMID 24366376 2014 Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 15604628 2004 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors.

PMID 23918944 2013 Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 17508274 2007 Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors.

PMID 17392385 2007 American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

PMID 19305347 2009 ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome.

PMID 20065170 2010 American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility.

PMID 2152385 1990 The school of dental medicine as a community resource. IV. The multidisciplinary head and neck cancer clinic.

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

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

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

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

PMID 9836072 1998 A new BRCA1 mutation in a Filipino woman with a family history of breast and ovarian cancer.

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

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

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

PMID 20858050 2010 A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.

PMID 19770520 2009 Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 20838878 2011 A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas.

PMID 10480351 1999 BRCA1 mutations in African Americans.

PMID 15533909 2004 BRCA1 and BRCA2 mutations in a study of African American breast cancer patients.

PMID 12491487 2003 Breast cancer genetics in African Americans.

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

PMID 21318380 2011 Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 22333603 2012 BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years.

PMID 20127978 2010 Genetic diagnosis of familial breast cancer using clonal sequencing.

PMID 15998910 2005 Mutation scanning by meltMADGE: validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general population.

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 16111488 2005 Phosphorylation states of cell cycle and DNA repair proteins can be altered by the nsSNPs.

PMID 26848529 2016 Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

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 25885115 2015 Screening of exon 11 of BRCA1 gene using the high resolution melting approach for diagnosis in Moroccan breast cancer patients.

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

PMID 23289006 2013 Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.

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

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

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 16515586 2006 BRCA1 germline mutations in Chinese patients with hereditary breast and ovarian cancer.

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 25141179 2014 Saturation editing of genomic regions by multiplex homology-directed repair.

PMID 19805903 2009 BRCA1 and BRCA2 germline mutation analysis among Indian women from south India: identification of four novel mutations and high-frequency occurrence of 185delAG mutation.

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

PMID 11773283 2002 Frequency of BRCA1 dysfunction in ovarian cancer.

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

PMID 27062684 2016 Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.

PMID 18092194 2008 Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations.

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

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

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

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

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

PMID 14722926 2004 Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

PMID 18163131 2008 The emerging landscape of breast cancer susceptibility.

PMID 12692171 2003 American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.

PMID 28364669 2017 Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.

PMID 8968716 1996 BRCA1 R841W: a strong candidate for a common mutation with moderate phenotype.

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

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

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

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

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

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

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

PMID 22401979 2012 Allelic transcripts dosage effect in morphologically normal ovarian cells from heterozygous carriers of a BRCA1/2 French Canadian founder mutation.

PMID 23341105 2013 Heterozygous mutations in the PALB2 hereditary breast cancer predisposition gene impact on the three-dimensional nuclear organization of patient-derived cell lines.

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

PMID 7894491 1994 Mutations in the BRCA1 gene in families with early-onset breast and ovarian 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 15235020 2004 Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.

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

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

PMID 30962250 2019 Towards controlled terminology for reporting germline cancer susceptibility variants: an ENIGMA report.

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

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

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

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

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

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

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

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

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

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

PMID 17591843 2007 Founder mutations in BRCA1 and BRCA2 genes.

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

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

PMID 18446624 2008 Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource.

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

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

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

PMID 21523855 2011 Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants.

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

PMID 21673748 2011 Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.

PMID 12955719 2003 RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.

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

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

PMID 22856468 2013 The BRCA1 S1715N mutation segregates with breast and ovarian cancer in an extended family pedigree.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 21990299 2011 Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer.

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

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

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

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

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

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 10227398 1999 High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects.

PMID 953609 1976 XIV--The chi tests.

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

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 9649133 1998 BRCA1 mutations in southern England.

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

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

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

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

PMID 16685647 2006 Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation.

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

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

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

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

PMID 19892845 2010 Alternative splicing and molecular characterization of splice site variants: BRCA1 c.591C>T as a case study.

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

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

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

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

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

PMID 24719479 2014 Serous tubal intraepithelial carcinoma in a Japanese woman with a deleterious BRCA1 mutation.

PMID 11597388 2001 Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch 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 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 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 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 17445839 2007 Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers.

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

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

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

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

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 16969499 2006 Missense mutations of BRCA1 gene affect the binding with p53 both in vitro and in vivo.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 9482581 1998 Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.

PMID 9528852 1998 BAP1: a novel ubiquitin hydrolase which binds to the BRCA1 RING finger and enhances BRCA1-mediated cell growth suppression.

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

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

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

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

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

PMID 23364291 2013 BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia.

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

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

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

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

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

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

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

PMID 12698193 2003 BRCA1 and BRCA2 mutations in Scotland and Northern Ireland.

PMID 11573085 2001 Structure of a BRCA1-BARD1 heterodimeric RING-RING complex.

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

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

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

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

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 16280041 2005 Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.

PMID 16847550 2006 Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families.

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

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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.

PMID 21735045 2012 Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.

PMID 27081505 2014 This population is highly admixed with a different spectrum of genetic susceptibility, with the Galician founder mutation BRCA1 p.R71G accounting for 50% of all identified mutations in high-risk HBOC patients.

PMID 9664122 1998 Detection of BRCA1 gene mutations in families with breast cancer patients and their healthy relatives.

PMID 28176296 2017 BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer.

PMID 10571952 1999 Mutation in the coding region of the BRCA1 gene leads to aberrant splicing of the transcript.

PMID 24607278 2014 Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.

PMID 11263928 2001 A genetic epidemiological study of carcinoma of the fallopian tube.

PMID 20352487 2011 Mutations and polymorphic BRCA variants transmission in breast cancer familial members.

PMID 23374397 2013 First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report.

PMID 11030418 2000 Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer.

PMID 29021639 2017 "Mutational spectrum in breast cancer associated

PMID 24660075 2014 A Paternally Inherited BRCA1 Mutation Associated with an Unusual Aggressive Clinical Phenotype.

PMID 17574839 2007 Genetic epidemiology of BRCA mutations--family history detects less than 50% of the mutation carriers.

PMID 27167707 2016 Detection of somatic BRCA1/2 mutations in ovarian cancer - next-generation sequencing analysis of 100 cases.

PMID 16912212 2006 Prevalence and predictors of BRCA1 and BRCA2 mutations in a population-based study of breast cancer in white and black American women ages 35 to 64 years.

PMID 28414925 2017 Reversion of BRCA1/2 Germline Mutations Detected in Circulating Tumor DNA From Patients With High-Grade Serous Ovarian Cancer.

PMID 25777348 2015 BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer.

PMID 20737206 2011 A recombination-based method to characterize human BRCA1 missense variants.

PMID 18627636 2008 Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

PMID 20875879 2010 A missense variant within BRCA1 exon 23 causing exon skipping.

PMID 16280041 2005 Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms.

PMID 19770520 2009 Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations.

PMID 14757871 2004 Haplotype and cancer risk analysis of two common mutations, BRCA1 4184del4 and BRCA2 2157delG, in high risk northwest England breast/ovarian families.

PMID 10699917 2000 Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure.

PMID 11039575 2000 Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.

PMID 11109172 2000 Primary ovarian dysgerminoma in a patient with a germline BRCA1 mutation.

PMID 12505256 2002 Analysis of BRCA1, TP53, and TSG101 germline mutations in German breast and/or ovarian cancer families.

PMID 25716084 2015 The prevalence of BRCA1 and BRCA2 mutations among young Mexican women with triple-negative breast cancer.

PMID 26026974 2015 BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

PMID 14517958 2003 Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations.

PMID 18340530 2009 BRCA1 2080insA mutation in familial breast cancer.

PMID 11956590 2002 Characterization of 2 novel and 2 recurring BRCA1 germline mutations in breast and/or ovarian carcinoma patients from the area of Naples.

PMID 25256238 2015 Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from Peru.

PMID 23569316 2013 Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer.

PMID 23633455 2013 Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

PMID 22516946 2012 Germline BRCA1 mutations increase prostate cancer risk.

PMID 21751003 2011 Identification of the deleterious 2080insA BRCA1 mutation in a male renal cell carcinoma patient from a family with multiple cancer diagnoses from Pakistan.

PMID 16685647 2006 Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation.

PMID 19499246 2009 BRCA1 and BRCA2 germline mutations in Korean ovarian cancer patients.

PMID 17100994 2006 Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer.

PMID 24827135 2014 Multicentric neoadjuvant phase II study of panitumumab combined with an anthracycline/taxane-based chemotherapy in operable triple-negative breast cancer: identification of biologically defined signatures predicting treatment impact.

PMID 28123851 2017 The fate of BRCA1-related germline mutations in triple-negative breast tumors.

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

PMID 14746861 2004 One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden.

PMID 18779604 2008 Performance of BRCA1/2 mutation prediction models in Asian Americans.

PMID 10441573 1999 Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer.

PMID 23289006 2013 Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population.

PMID 8900426 1996 BRCA1 mutations in German breast-cancer families.

PMID 27914478 2016 Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.

PMID 17319787 2007 The spectrum and incidence of BRCA1 pathogenic mutations in Slovak breast/ovarian cancer families.

PMID 7606717 1995 Mutation analysis of the BRCA1 gene in ovarian cancers.

PMID 23317271 2012 Screening of 185DelAG, 1014DelGT and 3889DelAG BRCA1 mutations in breast cancer patients from North-East India.

PMID 15146557 2004 A high proportion of founder BRCA1 mutations in Polish breast cancer families.

PMID 22160602 2012 Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.

PMID 16774946 2006 Common variants in mismatch repair genes and risk of invasive ovarian cancer.

PMID 9145677 1997 BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer.

PMID 22333603 2012 BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years.

PMID 27616075 2017 Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2.

PMID 7894492 1994 Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families.

PMID 15146556 2004 BRCA1 mutations in South African breast and/or ovarian cancer families: evidence of a novel founder mutation in Afrikaner families.

PMID 26577449 2015 BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.

PMID 20858050 2010 A one-step prescreening for point mutations and large rearrangement in BRCA1 and BRCA2 genes using quantitative polymerase chain reaction and high-resolution melting curve analysis.

PMID 22685544 2012 BRCA1 regulates follistatin function in ovarian cancer and human ovarian surface epithelial cells.

PMID 24171766 2013 Common low-penetrance risk variants associated with breast cancer in Polish women.

PMID 10951344 2000 Novel germline BRCA1 mutations detected in women in singapore who developed breast carcinoma before the age of 36 years.

PMID 17592676 2007 Large genomic rearrangement in BRCA1 and BRCA2 and clinical characteristics of men with breast cancer in the United States.

PMID 27062684 2016 Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study.

PMID 18042939 2007 Breast cancer risk among male BRCA1 and BRCA2 mutation carriers.

PMID 16457150 2006 Molecular profile and clinical variables in BRCA1-positive breast cancers. A population-based study.

PMID 12112655 2002 BRCA1 and BRCA2 mutations in Turkish familial and non-familial ovarian cancer patients: a high incidence of mutations in non-familial cases.

PMID 14871810 2004 Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?

PMID 23635950 2013 Serbian high-risk families: extensive results on BRCA mutation spectra and frequency.

PMID 10952774 2000 Prevalence of BRCA1 in a hospital-based population of Dutch breast cancer patients.

PMID 19941167 2010 Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing.

PMID 18819001 2009 BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy.

PMID 26350514 2016 BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.

PMID 10660329 1998 Characterization of ten novel and 13 recurring BRCA1 and BRCA2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. Online.

PMID 11720839 2001 Genetic epidemiology of BRCA1 mutations in Norway.

PMID 14531499 2003 Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation.

PMID 14522380 2003 The Norwegian founder mutations in BRCA1: high penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer.

PMID 15477862 2004 BRCA1 mutations in ovarian cancer and borderline tumours in Norway: a nested case-control study.

PMID 19837273 2009 Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report.

PMID 19340607 2009 "Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations."

PMID 26023681 2015 Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.

PMID 28637432 2017 Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers.

PMID 25476495 2015 Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry.

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PMID 10874312 2000 Mutational analysis of BRCA1 and BRCA2 genes in Chinese ovarian cancer identifies 6 novel germline mutations.

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

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PMID 26296701 2015 Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.

PMID 11376024 2001 The usefulness of antibodies to the BRCA1 protein in detecting the mutated BRCA1 gene. An immunohistochemical study.

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PMID 11466700 2001 The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data.

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PMID 20838878 2011 A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas.

PMID 10227398 1999 High frequency of BRCA1/2 germline mutations in 42 Belgian families with a small number of symptomatic subjects.

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

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PMID 11391658 2001 Caucasian family with two independent mutations: 2594delC in BRCA1 and 5392delAG in BRCA2 gene.

PMID 9836472 1998 BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1.

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PMID 21281505 2011 Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry.

PMID 10406662 1999 BRCA1 IVS16+6T-->C is a deleterious mutation that creates an aberrant transcript by activating a cryptic splice donor site.

PMID 25971625 2015 Evaluation of BRCA12 mutational status among German and Austrian women with triple-negative breast cancer.

PMID 24667779 2014 Functional characterization of BRCA1 gene variants by mini-gene splicing assay.

PMID 21735045 2012 Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.

PMID 21989022 2011 A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.

PMID 19629752 2009 Identification of a de novo BRCA1 mutation in a woman with early onset bilateral breast cancer.

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 26997744 2016 Contribution of BRCA1 and BRCA2 Germline Mutations to Early Algerian Breast Cancer.

PMID 21394826 2011 Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary.

PMID 27328445 2016 Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.

PMID 26046366 2015 Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

PMID 10479726 1999 A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism.

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PMID 22703879 2012 Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

PMID 17997147 2008 High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland.

PMID 19471317 2009 Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study.

PMID 14684619 2004 High-throughput mutation detection method to scan BRCA1 and BRCA2 based on heteroduplex analysis by capillary array electrophoresis.

PMID 9354803 1997 BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.

PMID 25281711 2014 The performance of BRCA1 immunohistochemistry for detecting germline, somatic, and epigenetic BRCA1 loss in high-grade serous ovarian cancer.

PMID 18693280 2009 Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs.

PMID 28802053 2018 Gene-panel testing of breast and ovarian cancer patients identifies a recurrent RAD51C duplication.

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

PMID 14513821 2003 A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--&gt; C is a mutation.

PMID 11428389 2001 A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23.

PMID 16211554 2005 Molecular characterization and cancer risk associated with BRCA1 and BRCA2 splice site variants identified in multiple-case breast cancer families.

PMID 18445692 2008 Loss of heterozygosity at the BRCA2 locus detected by multiplex ligation-dependent probe amplification is common in prostate cancers from men with a germline BRCA2 mutation.

PMID 20020529 2010 Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance.

PMID 18165637 2008 BRCA1 p.Val1688del is a deleterious mutation that recurs in breast and ovarian cancer families from Northeast Italy.

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

PMID 26306726 2015 Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

PMID 12955719 2003 RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain.

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

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

PMID 24618965 2014 Clinical interpretation and implications of whole-genome sequencing.

PMID 18980973 2008 BRCA1 5083del19 mutant allele selectively up-regulates periostin expression in vitro and in vivo.

PMID 18228134 2009 Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?

PMID 11462242 2001 Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer.

PMID 24961674 2014 The prevalence of BRCA1/2 mutations of triple-negative breast cancer patients in Xinjiang multiple ethnic region of China.

PMID 29297111 2018 High prevalence of deleterious BRCA1 and BRCA2 germline mutations in arab breast and ovarian cancer patients.

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