BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins. 23929434 2013
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. 22144684 2012
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311 2011
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516 2011
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. 21952622 2011
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis. 20736950 2010
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. 15024741 2004
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. 12955716 2003
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer. 11158174 2001
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. 9585613 1998
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR Mutations of the BRCA2 gene in ovarian carcinomas. 8665505 1996
dbSNP: rs80359351
rs80359351
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C2675520
Disease:
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR Identification of the breast cancer susceptibility gene BRCA2. 8524414 1996