Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations. 26028024

2016

dbSNP: rs62625308
rs62625308
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: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR Actionable exomic incidental findings in 6503 participants: challenges of variant classification. 25637381

2015

dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR High prevalence of BRCA1 founder mutations in Greek breast/ovarian families. 24010542

2014

dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases. 23536787

2013

dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity. 22752604

2012

dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR BRCA1 And BRCA2 analysis of Argentinean breastovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. 23961350

2012

dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. 22798144

2012

dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011

dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011

dbSNP: rs62625308
rs62625308
A 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: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients. 17453335

2008

dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR [Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg]. 15865297

2005

dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR Germline mutations in the BRCA1 and BRCA2 genes in Turkish breast/ovarian cancer patients. 12655560

2003

dbSNP: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR Clustering of variations and haplotype analysis in the highly variable region of exon 11 of BRCA1 in Chinese women with sporadic breast cancer. 12402341

2002

dbSNP: rs62625308
rs62625308
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: rs62625308
rs62625308
A 0.700 CausalMutation CLINVAR Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. 7894493

1994