BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 CausalMutation CLINVAR Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. 31131967 2019
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing. 25893891 2015
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111 2013
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Functional differences among BRCA1 missense mutations in the control of centrosome duplication. 21725363 2012
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134 2012
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast. 21922593 2011
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. 20103620 2010
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example. 19563646 2009
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331 2007
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250 2001
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. 10717622 2000
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR A highly accurate, low cost test for BRCA1 mutations. 10528853 1999
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer. 9523200 1998
dbSNP: rs80356929
rs80356929
Entrez Id: 672;10230
Gene Symbol: BRCA1;NBR2
BRCA1;NBR2
CUI: C2676676
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation CLINVAR BRCA1 mutations in a population-based sample of young women with breast cancer. 8531967 1996