Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. 26350514

2016
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055

2014
dbSNP: rs80357635
rs80357635
BRCA1
C 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: rs80357635
rs80357635
BRCA1
C 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: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR Heterogeneous prevalence of recurrent BRCA1 and BRCA2 mutations in Spain according to the geographical area: implications for genetic testing. 19941167

2010
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR Germline mutations in MEN1 and BRCA1 genes in a woman with familial multiple endocrine neoplasia type 1 and inherited breast-ovarian cancer syndromes: a case report. 19837273

2009
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy. 18819001

2009
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. 18821011

2009
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR Genetic epidemiology of BRCA mutations--family history detects less than 50% of the mutation carriers. 17574839

2007
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR Founder mutations in BRCA1 and BRCA2 genes. 17591843

2007
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence of BRCA mutations and founder effect in high-risk Hispanic families. 16030099

2005
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1 mutations in ovarian cancer and borderline tumours in Norway: a nested case-control study. 15477862

2004
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations. 15340362

2004
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutation. 14531499

2003
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR The Norwegian founder mutations in BRCA1: high penetrance confirmed in an incident cancer series and differences observed in the risk of ovarian cancer. 14522380

2003
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR Genetic epidemiology of BRCA1 mutations in Norway. 11720839

2001
dbSNP: rs80357635
rs80357635
BRCA1
C 0.700 CausalMutation CLINVAR Characterization of ten novel and 13 recurring BRCA1 and BRCA2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. Online. 10660329

1998