Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359876
rs80359876
BRCA1
T 0.700 CausalMutation CLINVAR Clinical interpretation and implications of whole-genome sequencing. 24618965

2014
dbSNP: rs80359876
rs80359876
BRCA1
T 0.700 CausalMutation 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: rs80359876
rs80359876
BRCA1
T 0.700 CausalMutation CLINVAR BRCA1 5083del19 mutant allele selectively up-regulates periostin expression in vitro and in vivo. 18980973

2008
dbSNP: rs80359876
rs80359876
BRCA1
T 0.700 CausalMutation CLINVAR BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses. 17221156

2007
dbSNP: rs80359876
rs80359876
BRCA1
T 0.700 CausalMutation CLINVAR Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. 18159056

2007
dbSNP: rs80359876
rs80359876
BRCA1
T 0.700 CausalMutation 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: rs80359876
rs80359876
BRCA1
T 0.700 CausalMutation CLINVAR BRCA mutations in Italian breast/ovarian cancer families. 11938448

2002
dbSNP: rs80359876
rs80359876
BRCA1
T 0.700 CausalMutation CLINVAR Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer. 11462242

2001
dbSNP: rs80359876
rs80359876
BRCA1
T 0.700 CausalMutation CLINVAR BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. 9145677

1997