Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225

2017

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016

dbSNP: rs80357509
rs80357509
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: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations. 24285858

2014

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Evaluation of BRCA1 mutations in an unselected patient population with triple-negative breast cancer. 23192404

2013

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Massive parallel amplicon sequencing of the breast cancer genes BRCA1 and BRCA2: opportunities, challenges, and limitations. 21305653

2011

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial. 20609468

2010

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. 23199084

2010

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. 18159056

2007

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254

2006

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families. 15642173

2005

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR A prospective study on predictive factors linked to the presence of BRCA1 and BRCA2 mutations in breast cancer patients. 15955690

2005

dbSNP: rs80357509
rs80357509
A 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

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients. 11436123

2001

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Large regional differences in the frequency of distinct BRCA1/BRCA2 mutations in 517 Dutch breast and/or ovarian cancer families. 11597388

2001

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure. 10699917

2000

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Characteristics of small breast and/or ovarian cancer families with germline mutations in BRCA1 and BRCA2. 10188893

1999

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. 9667259

1998

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. 9361038

1997

dbSNP: rs80357509
rs80357509
A 0.700 CausalMutation CLINVAR A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. 9150151

1997