Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer. 25556971

2015
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. 23569316

2013
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR BRCA1 testing should be offered to individuals with triple-negative breast cancer diagnosed below 50 years. 22333603

2012
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Prevalence and predictors of loss of wild type BRCA1 in estrogen receptor positive and negative BRCA1-associated breast cancers. 21080930

2010
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Aberrant luminal progenitors as the candidate target population for basal tumor development in BRCA1 mutation carriers. 19648928

2009
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. 18824701

2008
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. 17688236

2007
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Single nucleotide polymorphisms in clinical genetic testing: the characterization of the clinical significance of genetic variants and their application in clinical research for BRCA1. 15829246

2005
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. 11179017

2001
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Evidence of a founder BRCA1 mutation in Scotland. 10682686

2000
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: results of an international study. 8571953

1996
dbSNP: rs80359874
rs80359874
BRCA1
T 0.700 CausalMutation CLINVAR Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1994