Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356925
rs80356925
BRCA1
C 0.700 CausalMutation CLINVAR High prevalence and predominance of BRCA1 germline mutations in Pakistani triple-negative breast cancer patients. 27553291

2016
dbSNP: rs80356925
rs80356925
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence of BRCA1/2 mutations in sporadic breast/ovarian cancer patients and identification of a novel de novo BRCA1 mutation in a patient diagnosed with late onset breast and ovarian cancer: implications for genetic testing. 21553119

2012
dbSNP: rs80356925
rs80356925
BRCA1
C 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs80356925
rs80356925
BRCA1
C 0.700 CausalMutation CLINVAR The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. 17851763

2008
dbSNP: rs80356925
rs80356925
BRCA1
C 0.700 CausalMutation CLINVAR Loss of nuclear BRCA1 protein staining in normal tissue cells derived from BRCA1 and BRCA2 mutation carriers. 17445839

2007
dbSNP: rs80356925
rs80356925
BRCA1
C 0.700 CausalMutation CLINVAR Accurate prediction of BRCA1 and BRCA2 heterozygous genotype using expression profiling after induced DNA damage. 16818684

2006
dbSNP: rs80356925
rs80356925
BRCA1
C 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. 12181777

2002