Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR The prevalence and spectrum of BRCA1 and BRCA2 mutations in Korean population: recent update of the Korean Hereditary Breast Cancer (KOHBRA) study. 25863477

2015
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Breast and ovarian cancer risks in a large series of clinically ascertained families with a high proportion of BRCA1 and BRCA2 Dutch founder mutations. 24285858

2014
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Functional characterization of BRCA1 gene variants by mini-gene splicing assay. 24667779

2014
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence. 23479189

2013
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer. 23164213

2012
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes. 21735045

2012
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Genetic testing and prevention of hereditary cancer at the MMCI--over 10 years of experience. 21348412

2010
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example. 19563646

2009
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer. 18627636

2008
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254

2006
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. 11802209

2002
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. 9760198

1998
dbSNP: rs80358163
rs80358163
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Implications of a novel cryptic splice site in the BRCA1 gene. 9805131

1998