Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 GeneticVariation CLINVAR

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		1.000 CausalMutation CLINVAR

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 CausalMutation CLINVAR Essential Role of BRCA2 in Ovarian Development and Function. 30207912

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
FANCONI ANEMIA, COMPLEMENTATION GROUP D1 		0.920 GeneticVariation CLINVAR

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.900 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.900 CausalMutation CLINVAR

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.900 GeneticVariation CLINVAR

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.900 GeneticVariation CLINVAR

Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR The functional impact of variants of uncertain significance in BRCA2. 29988080

2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR BRCA Reversion Mutations in Circulating Tumor DNA Predict Primary and Acquired Resistance to the PARP Inhibitor Rucaparib in High-Grade Ovarian Carcinoma. 30425037

2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays. 30883759

2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population. 30630528

2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population. 30103829

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer. 29368341

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Characterization of spliceogenic variants located in regions linked to high levels of alternative splicing: BRCA2 c.7976+5G > T as a case study. 29969168

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia. 28993434

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. 29707112

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients. 29785135

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches. 29394989

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR). 28726806

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Ipilimumab plus nivolumab and DNA-repair defects in AR-V7-expressing metastatic prostate cancer. 29983880

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR Intraductal/ductal histology and lymphovascular invasion are associated with germline DNA-repair gene mutations in prostate cancer. 29368341

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR The germline mutational landscape of BRCA1 and BRCA2 in Brazil. 29907814

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide. 29439820

2018
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 CausalMutation CLINVAR BRCA germline mutations in an unselected nationwide cohort of Chinese patients with ovarian cancer and healthy controls. 30078507

2018