Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979

2018

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 29394989

2018

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Germline and somatic mutations in homologous recombination genes among Chinese ovarian cancer patients detected using next-generation sequencing. 28541631

2017

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic. 27194814

2016

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR High prevalence of BRCA1 stop mutation c.4183C>T in the Tyrolean population: implications for genetic testing. 26014432

2016

dbSNP: rs80359013
rs80359013
A 0.700 CausalMutation CLINVAR Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. 26187060

2016

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR DNA helicases FANCM and DDX11 are determinants of PARP inhibitor sensitivity. 25583207

2015

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. 25782689

2015

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Molding BRCA2 function through its interacting partners. 26566862

2015

dbSNP: rs80359013
rs80359013
A 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene. 24301060

2014

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance. 25146914

2014

dbSNP: rs80359013
rs80359013
C 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

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. 21990165

2012

dbSNP: rs80359013
rs80359013
A 0.700 CausalMutation CLINVAR Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis. 22970155

2012

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR BRCA2 mutations and triple-negative breast cancer. 22666503

2012

dbSNP: rs80359013
rs80359013
C 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: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. 21203900

2011

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Hepatoblastoma in a 4-year-old girl with Fanconi anaemia. 21138478

2011

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596

2011

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. 21520273

2011

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010

dbSNP: rs80359013
rs80359013
A 0.700 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population. 21218378

2010

dbSNP: rs80359013
rs80359013
C 0.700 GeneticVariation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619

2008