Variant: rs80357438 

    present in Gene: NBR2;BRCA1
    present in Chromosome: 17
    Position on Chromosome: 43124032
    Alleles of this Variant: A/G;T

rs80357438 in NBR2;BRCA1 gene and BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 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.

rs80357438 in NBR2;BRCA1 gene and Hereditary Breast and Ovarian Cancer Syndrome PMID 25823446 2015 Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

PMID 27225819 2016 BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.

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

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

rs80357438 in NBR2;BRCA1 gene and Malignant neoplasm of breast PMID 14722926 2004 Novel germline mutations in the BRCA1 and BRCA2 genes in Indian breast and breast-ovarian cancer families.

PMID 8776600 1996 Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.

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

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

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

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

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

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

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

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

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

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 11114888 2000 Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress.

PMID 10323242 1999 Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.

PMID 11301010 2001 BACH1, a novel helicase-like protein, interacts directly with BRCA1 and contributes to its DNA repair function.

PMID 12442275 2002 BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.

rs80357438 in NBR2;BRCA1 gene and Neoplastic Syndromes, Hereditary PMID 9609997 1998 High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families.

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

PMID 27225819 2016 BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.

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

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

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

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

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

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