Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357868
rs80357868
BRCA1
T 0.700 GeneticVariation CLINVAR BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. 22711857

2012
dbSNP: rs80357868
rs80357868
BRCA1
T 0.700 GeneticVariation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011
dbSNP: rs80357868
rs80357868
BRCA1
T 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: rs80357868
rs80357868
BRCA1
T 0.700 GeneticVariation CLINVAR Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. 19491284

2009
dbSNP: rs80357868
rs80357868
BRCA1
T 0.700 GeneticVariation CLINVAR The contribution of founder mutations to early-onset breast cancer in French-Canadian women. 19863560

2009
dbSNP: rs80357868
rs80357868
BRCA1
T 0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. 19241424

2009
dbSNP: rs80357868
rs80357868
BRCA1
T 0.700 GeneticVariation CLINVAR Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families. 16847550

2006
dbSNP: rs80357868
rs80357868
BRCA1
T 0.700 GeneticVariation CLINVAR [Analysis of the mutations of BRCA1 in 9 familiar breast cancer patients]. 12947551

2003
dbSNP: rs80357868
rs80357868
BRCA1
T 0.700 GeneticVariation 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: rs80357868
rs80357868
BRCA1
T 0.700 GeneticVariation CLINVAR The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. 12393792

2002
dbSNP: rs80357868
rs80357868
BRCA1
T 0.700 GeneticVariation CLINVAR BRCA1 mutations in a population-based sample of young women with breast cancer. 8531967

1996
dbSNP: rs80357868
rs80357868
BRCA1
T 0.700 GeneticVariation CLINVAR Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. 7894491

1994
dbSNP: rs80357868
rs80357868
BRCA1
T 0.700 CausalMutation CLINVAR