Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 CausalMutation CLINVAR Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma. 19654294

2009
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). 22762150

2012
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		A 0.700 CausalMutation CLINVAR EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. 21120943

2011
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. 23569316

2013
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Implementation and utilization of the molecular tumor board to guide precision medicine. 28915716

2017
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		G 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. 17688236

2007
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 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: rs80358721
rs80358721
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: rs80358721
rs80358721
BRCA2
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		G 0.700 CausalMutation CLINVAR

dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Earlier age of onset of BRCA mutation-related cancers in subsequent generations. 21913181

2012
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis. 27376475

2016
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning. 20167696

2010
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. 21120943

2011
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 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: rs80358721
rs80358721
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. 23569316

2013
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		A 0.700 CausalMutation CLINVAR

dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation. 23415752

2013
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		G 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds. 29371908

2018
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.700 CausalMutation CLINVAR

dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing. 25136594

2014
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C3150546
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2
PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 		G 0.700 CausalMutation CLINVAR

dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Functional restoration of BRCA2 protein by secondary BRCA2 mutations in BRCA2-mutated ovarian carcinoma. 19654294

2009
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. 22009639

2012
dbSNP: rs80358721
rs80358721
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer. 17688236

2007