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: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients. 26848529 2016
dbSNP: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in ethnic Lebanese Arab women with high hereditary risk breast cancer. 25777348 2015
dbSNP: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations. 23633455 2013
dbSNP: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081 2013
dbSNP: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. 22798144 2012
dbSNP: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families. 22160602 2012
dbSNP: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Spectra of BRCA1 and BRCA2 mutations in Korean patients with breast cancer: the importance of whole-gene sequencing. 22217648 2012
dbSNP: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. 22713736 2012
dbSNP: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 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: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study. 19471317 2009
dbSNP: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. 19016756 2008
dbSNP: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. 18465347 2008
dbSNP: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 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: rs80359520
rs80359520
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Somatic and germline mutations of the BRCA2 gene in sporadic ovarian cancer. 8705994 1996