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).
rs80356929 in
BRCA1;NBR2 gene and
Malignant neoplasm of breast
PMID 8776600 1996 Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.
PMID 9482581 1998 Constant denaturant gel electrophoresis (CDGE) in BRCA1 mutation screening.
PMID 8723683 1996 Mutations in the BRCA1 gene in Japanese breast cancer patients.
PMID 7894491 1994 Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.
PMID 11301010 2001 BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.
PMID 7939630 1994 BRCA1 mutations in primary breast and ovarian carcinomas.
PMID 11114888 2000 Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.
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 10323242 1999 Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.
PMID 12427738 2003 Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.
PMID 12442275 2002 BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.
PMID 7894493 1994 Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.
PMID 15133502 2004 Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer.
PMID 21473589 2011 Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
PMID 12938098 2003 Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany.
PMID 18285836 2008 Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
PMID 14722926 2004 Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.
PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.
PMID 7545954 1994 A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1.
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.
rs80356929 in
BRCA1;NBR2 gene and
Neoplastic Syndromes, Hereditary
PMID 23867111 2013 A high-throughput functional complementation assay for classification of BRCA1 missense variants.
PMID 9523200 1998 Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer.
PMID 8531967 1996 BRCA1 mutations in a population-based sample of young women with breast cancer.
PMID 9544766 1998 BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history.
PMID 25823446 2015 Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
PMID 21372787 2011 Identifying the effects of BRCA1 mutations on homologous recombination using cells that express endogenous wild-type BRCA1.
PMID 27272900 2016 Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
PMID 23161852 2013 Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.