Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Genetic characterization of early onset ovarian carcinoma. 26718727

2016

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic. 27194814

2016

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients. 26848529

2016

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. 24504028

2014

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 24728189

2014

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling. 23704984

2013

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. 23199084

2010

dbSNP: rs80357662
rs80357662
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: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. 20609467

2010

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR High penetrances of BRCA1 and BRCA2 mutations confirmed in a prospective series. 20180971

2010

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. 18465347

2008

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation prevalence and clinical characteristics of a population-based series of ovarian cancer cases from Denmark. 18559594

2008

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR BRCA1 mutations in ovarian cancer and borderline tumours in Norway: a nested case-control study. 15477862

2004

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Molecular analysis of the eighteen most frequent mutations in the BRCA1 gene in 63 Chilean breast cancer families. 15515971

2004

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR The BRCA1 syndrome and other inherited breast or breast-ovarian cancers in a Norwegian prospective series. 11334729

2001

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Genetic epidemiology of BRCA1 mutations in Norway. 11720839

2001

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure. 10699917

2000

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer. 10441573

1999

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR BRCA1 1675delA and 1135insA account for one third of Norwegian familial breast-ovarian cancer and are associated with later disease onset than less frequent mutations. 10595257

1999

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing. 9616287

1997

dbSNP: rs80357662
rs80357662
C 0.700 CausalMutation CLINVAR Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. 8644702

1996