Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR The functional impact of variants of uncertain significance in BRCA2. 29988080

2019

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979

2018

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling. 26733283

2016

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

2016

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation 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
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significance. 25146914

2014

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR BRCA2 mutations and triple-negative breast cancer. 22666503

2012

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation 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
Hereditary Breast and Ovarian Cancer Syndrome
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
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596

2011

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. 21520273

2011

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. 21203900

2011

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR Hepatoblastoma in a 4-year-old girl with Fanconi anaemia. 21138478

2011

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation 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
Hereditary Breast and Ovarian Cancer Syndrome
A 0.700 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 mutations in a selected Hawaii population. 21218378

2010

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation 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: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR Mutation analysis of BRCA1 and BRCA2 from 793 Korean patients with sporadic breast cancer. 17100994

2006

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR Inherited FANCD1/BRCA2 exon 7 splice mutations associated with acute myeloid leukaemia in Fanconi anaemia D1 are not found in sporadic childhood leukaemia. 16115142

2005

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. 15070707

2004

dbSNP: rs80359013
rs80359013
Hereditary Breast and Ovarian Cancer Syndrome
C 0.700 CausalMutation CLINVAR Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. 11802209

2002