Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225

2017
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR "Mutational spectrum in breast cancer associated 29021639

2017
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations. 26028024

2016
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Evaluation of germline BRCA1 and BRCA2 mutations in a multi-ethnic Asian cohort of ovarian cancer patients. 26541979

2016
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. 27553291

2016
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. 25682074

2015
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Non-founder BRCA1 mutations in Russian breast cancer patients. 20727672

2010
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in Pakistani breast and ovarian cancer patients. 16998791

2006
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families. 16528604

2006
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Average age-specific cumulative risk of breast cancer according to type and site of germline mutations in BRCA1 and BRCA2 estimated from multiple-case breast cancer families attending Australian family cancer clinics. 12601471

2003
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. 12393792

2002
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR BRCA1 interacts with acetyl-CoA carboxylase through its tandem of BRCT domains. 12360400

2002
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Identification of a recurrent BRCA1 mutation in German breast-cancer and/or ovarian-cancer families. 11260866

2001
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure. 10699917

2000
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mutation analysis of BRCA1 and BRCA2 in Turkish cancer families: a novel mutation BRCA2 3414del4 found in male breast cancer. 10505028

1999
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR The contribution of germline BRCA1 and BRCA2 mutations to familial ovarian cancer: no evidence for other ovarian cancer-susceptibility genes. 10486320

1999
dbSNP: rs41293465
rs41293465
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR A high incidence of BRCA1 mutations in 20 breast-ovarian cancer families. 8554067

1996