Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359301
rs80359301
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 28873162

2017
dbSNP: rs80359301
rs80359301
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312

2016
dbSNP: rs80359301
rs80359301
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Frequency of Germline Mutations in 25 Cancer Susceptibility Genes in a Sequential Series of Patients With Breast Cancer. 26976419

2016
dbSNP: rs80359301
rs80359301
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry. 25476495

2015
dbSNP: rs80359301
rs80359301
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Erratum to: Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry. 25850536

2015
dbSNP: rs80359301
rs80359301
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. 18042939

2007
dbSNP: rs80359301
rs80359301
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry. 16234499

2005
dbSNP: rs80359301
rs80359301
BRCA2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		G 0.700 CausalMutation CLINVAR Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. 12161607

2002
dbSNP: rs80359301
rs80359301
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. 12161607

2002
dbSNP: rs80359301
rs80359301
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. 9667259

1998
dbSNP: rs80359301
rs80359301
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		GA 0.700 CausalMutation CLINVAR

dbSNP: rs80359301
rs80359301
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.700 CausalMutation CLINVAR