Xcode Life

Condition: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

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.

PMID 23772696 2014 Clinical implications of genetic testing for BRCA1 and BRCA2 mutations in Austria.

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

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

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

PMID 24212087 2014 Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

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

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

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

PMID 26221963 2015 Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.

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

PMID 20437199 2010 Identification of a novel BRCA1 nucleotide 4803delCC/c.4684delCC mutation and a nucleotide 249T>A/c.130T>A (p.Cys44Ser) mutation in two Greenlandic Inuit families: implications for genetic screening of Greenlandic Inuit families with high risk for breast and/or ovarian cancer.

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

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

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

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

PMID 26246475 2015 Functional isogenic modeling of BRCA1 alleles reveals distinct carrier phenotypes.

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

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

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

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

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 11844822 2002 BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic.

PMID 18071904 2008 Caspase-dependent BRCA1 cleavage facilitates chemotherapy-induced apoptosis.

PMID 20807450 2010 Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age.

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

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

PMID 27083775 2016 Germline Analysis from Tumor-Germline Sequencing Dyads to Identify Clinically Actionable Secondary Findings.

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

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

PMID 19208665 2009 Genetic services have value beyond BRCA1/2 testing.

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

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

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

PMID 17018160 2006 Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India.

PMID 24556621 2014 Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.

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

PMID 23175448 2013 BRCA1 germ-line mutations and tumor characteristics in eastern Chinese women with familial breast cancer.

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 21532809 2011 Ingredients for success: a familial cancer clinic in an oncology practice setting.

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

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

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

PMID 16949048 2006 Identification of BRCA1 and BRCA2 mutations from Korean breast cancer patients using denaturing HPLC.

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

PMID 17026620 2006 Inherited association of breast and colorectal cancer: limited role of CHEK2 compared with high-penetrance genes.

PMID 24631698 2014 Is there a link between ovarian cancer and tooth agenesis?

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

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

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

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

PMID 16835750 2006 The prevalence of BRCA1 and BRCA2 mutations in eastern Chinese women with breast cancer.

PMID 8880569 1996 BRCA1 mutations in a selected series of breast/ovarian cancer patients.

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

PMID 8622478 1996 New Austrian mutation in BRCA1 gene detected in three unrelated HBOC families.

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

PMID 28528518 2018 A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.

PMID 28680148 2017 Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients.

PMID 28024868 2017 Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer.

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

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

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

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

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

PMID 9738006 1998 The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression.

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

PMID 14574155 2003 Histopathological characteristics of BRCA1- and BRCA2-associated intraperitoneal cancer: a clinic-based study.

PMID 15642173 2005 Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families.

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

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

PMID 18704682 2009 Prediction of BRCA1-association in hereditary non-BRCA1/2 breast carcinomas with array-CGH.

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

PMID 24285858 2014 Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations.

PMID 27533489 2016 Earlier Age of Breast Cancer Onset in Israeli BRCA Carriers-Is it a Real Phenomenon?

PMID 9429140 1997 BRCA1 and BRCA2 mutation analysis in 86 early onset breast/ovarian cancer patients.

PMID 11334729 2001 The BRCA1 syndrome and other inherited breast or breast-ovarian cancers in a Norwegian prospective series.

PMID 11720839 2001 Genetic epidemiology of BRCA1 mutations in Norway.

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

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

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

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

PMID 21603858 2012 Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population.

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

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

PMID 19098453 2008 BRCA1 mutations contribute to cell motility and invasion by affecting its main regulators.

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

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

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

PMID 23274591 2013 Haplotype analysis and ancient origin of the BRCA1 c.4035delA Baltic founder mutation.

PMID 23149842 2013 An inherited NBN mutation is associated with poor prognosis prostate cancer.

PMID 22032251 2011 Genotype-phenotype correlations among BRCA1 4153delA and 5382insC mutation carriers from Latvia.

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

PMID 8644703 1996 Rapid detection of regionally clustered germ-line BRCA1 mutations by multiplex heteroduplex analysis. UKCCCR Familial Ovarian Cancer Study Group.

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 18645608 2008 BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.

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

PMID 20950396 2011 Family history, BRCA mutations and breast cancer in Vietnamese women.

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

PMID 16084575 2005 Germline mutations of BRCA1 and BRCA2 in Korean sporadic ovarian carcinoma.

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

PMID 24884828 2014 BRCA1/2 germline mutations and their clinical importance in Turkish breast cancer patients.

PMID 23096105 2012 Identification of a novel in-frame deletion in BRCA2 and analysis of variants of BRCA1/2 in Italian patients affected with hereditary breast and ovarian cancer.

PMID 9510469 1998 Multiplex mutation screening of the BRCA1 gene in 1000 Japanese breast cancers.

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

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

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

PMID 24578176 2014 Recurrent mutation testing of BRCA1 and BRCA2 in Asian breast cancer patients identify carriers in those with presumed low risk by family history.

PMID 18006916 2007 BRCA1 and BRCA2 mutations in an Asian clinic-based population detected using a comprehensive strategy.

PMID 18559594 2008 BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark.

PMID 11781691 2001 The western Swedish BRCA1 founder mutation 3171ins5; a 3.7 cM conserved haplotype of today is a reminiscence of a 1500-year-old mutation.

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

PMID 20206335 2010 DNA methylome of familial breast cancer identifies distinct profiles defined by mutation status.

PMID 26014432 2016 High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing.

PMID 10464631 1997 Genetic testing for breast cancer susceptibility: frequency of BRCA1 and BRCA2 mutations.

PMID 12947551 2003 [Analysis of the mutations of BRCA1 in 9 familiar breast cancer patients].

PMID 10196379 1999 Germline BRCA1 alterations in a population-based series of ovarian cancer cases.

PMID 21204799 2012 A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa.

PMID 21156238 2010 Germline mutations of BRCA1 and BRCA2 genes in Turkish breast, ovarian, and prostate cancer patients.

PMID 22874498 2012 Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.

PMID 8841191 1996 Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2.

PMID 23232912 2013 Frequency of 5382insC mutation of BRCA1 gene among breast cancer patients: an experience from Eastern India.

PMID 21119707 2011 On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.

PMID 10447273 1999 Strong founder effects in BRCA1 mutation carrier breast cancer patients from Latvia. Mutation in brief no. 258. Online.

PMID 15994883 2005 Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies.

PMID 16541315 2006 BRCA1-positive breast cancers in young women from Poland.

PMID 15951956 2005 High prevalence of two BRCA1 mutations, 4154delA and 5382insC, in Latvia.

PMID 17307836 2007 Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations.

PMID 25920394 2016 Prevalence of founder mutations in the BRCA1 and BRCA2 genes among unaffected women from the Bahamas.

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

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

PMID 12845657 2003 Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study.

PMID 26681682 2016 Genetic testing in a cohort of young patients with HER2-amplified breast cancer.

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

PMID 27167672 2017 Two Cases of Carcinosarcomas of the Ovary Involved in Hereditary Cancer Syndromes.

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

PMID 22516946 2012 Germline BRCA1 mutations increase prostate cancer risk.

PMID 8595428 1995 Detection of BRCA1 mutations by the protein truncation test.

PMID 10682686 2000 Evidence of a founder BRCA1 mutation in Scotland.

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

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

PMID 17624602 2007 BRCA1, BRCA2, TP53, and CDKN2A germline mutations in patients with breast cancer and cutaneous melanoma.

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

PMID 24797986 2014 BRCA1 gene-related hereditary susceptibility to breast and ovarian cancer in Latvia.

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

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

PMID 23348723 2013 Prediction of mutant mRNA splice isoforms by information theory-based exon definition.

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

PMID 12442273 2002 BRCA1 and BRCA2 in Indian breast cancer patients.

PMID 23940062 2013 Double heterozygosity in the BRCA1 and BRCA2 genes in Italian family.

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

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

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

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

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

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

PMID 12034536 2002 A change in the last base of BRCA1 exon 23, 5586G-->A, results in abnormal RNA splicing.

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

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 9805131 1998 Implications of a novel cryptic splice site in the BRCA1 gene.

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

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

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

PMID 21993501 2012 Promiscuity and the evolution of cooperative breeding.

PMID 20043088 2010 Elevated expression of Ki-67 identifies aggressive prostate cancers but does not distinguish BRCA1 or BRCA2 mutation carriers.

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

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 30105462 2018 Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).

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

PMID 10459348 1999 Classification of IVS1-10T-->C as a polymorphism of BRCA1.

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

rs80356929 in BRCA1;NBR2 gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

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

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

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

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

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

PMID 10717622 2000 Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases.

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

PMID 25893891 2015 Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing.

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

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

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

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

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

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

PMID 10851077 2000 Initiation of translation from a downstream in-frame AUG codon on BRCA1 can generate the novel isoform protein DeltaBRCA1(17aa).

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

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

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 10498392 1999 Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study.

PMID 8651293 1996 Two distinct origins of a common BRCA1 mutation in breast-ovarian cancer families: a genetic study of 15 185delAG-mutation kindreds.

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

PMID 11352856 2001 The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.

PMID 24764757 2014 Prevalence and impact of founder mutations in hereditary breast cancer in Latin America.

PMID 7550349 1995 The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals.

PMID 8531968 1996 Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer.

PMID 18034184 2007 Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations.

PMID 15994883 2005 Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies.

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

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 17307836 2007 Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations.

PMID 12473589 2002 Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.

rs1555600876 in NBR2;BRCA1 gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

PMID 22763381 2013 Haplotype analysis of the 185delAG BRCA1 mutation in ethnically diverse populations.

PMID 24737347 2014 BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.

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

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

PMID 23658460 2013 High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.

PMID 19906413 2010 BRCA1 185delAG mutant protein, BRAt, up-regulates maspin in ovarian epithelial cells.

PMID 18594935 2009 BRCA1 185delAG truncation protein, BRAt, amplifies caspase-mediated apoptosis in ovarian cells.

PMID 23086583 2013 Absence of loss of heterozygosity of BRCA1 in a renal tumor from a BRCA1 germline mutation carrier.

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

PMID 20711688 2011 A 67-year-old woman with BRCA 1 mutation associated with pancreatic adenocarcinoma.

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

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

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

PMID 22516946 2012 Germline BRCA1 mutations increase prostate cancer risk.

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

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

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

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

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

PMID 9609997 1998 High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.

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

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

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

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