Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446 2015
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752 2014
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer. 23192404 2013
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. 22923021 2012
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. 22034289 2012
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045 2012
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020 2004
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect. 15131401 2004
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
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
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers. 11106241 2000