BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
Disease: Hereditary Breast and Ovarian Cancer Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer. 29084914 2018
dbSNP: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Two novel frameshift mutations in BRCA2 gene detected by next generation sequencing in a survey of Spanish patients of breast cancer. 25586199 2015
dbSNP: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study. 26026974 2015
dbSNP: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 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: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081 2013
dbSNP: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Comprehensive splicing functional analysis of DNA variants of the BRCA2 gene by hybrid minigenes. 22632462 2012
dbSNP: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling. 17262179 2007
dbSNP: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain. 12655574 2003
dbSNP: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		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: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Mutational analysis of BRCA2 in Spanish breast cancer patients from Castilla-Leon: identification of four novel truncating mutations. 12655567 2003
dbSNP: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		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: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR BRCA2 mutations in hereditary breast and ovarian cancer in France. 9150172 1997
dbSNP: rs80359741
rs80359741
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. 8589730 1996