Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity. 22729890

2012
dbSNP: rs80359306
rs80359306
BRCA2
G 0.700 CausalMutation CLINVAR Analysis of breast cancer susceptibility genes BRCA1 and BRCA2 in Thai familial and isolated early-onset breast and ovarian cancer. 12203997

2002
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour. 15689453

2005
dbSNP: rs80359306
rs80359306
BRCA2
G 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. 11389159

2001
dbSNP: rs80359306
rs80359306
BRCA2
GA 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: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance, and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2. 9150150

1997
dbSNP: rs80359306
rs80359306
BRCA2
GA 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: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Breast cancer risk among male BRCA1 and BRCA2 mutation carriers. 18042939

2007
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010
dbSNP: rs80359306
rs80359306
BRCA2
G 0.700 CausalMutation CLINVAR Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. 11802209

2002
dbSNP: rs80359306
rs80359306
BRCA2
G 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: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure. 10699917

2000
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management. 22535016

2012
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. 23199084

2010
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Germline mutations in BRCA2: shared genetic susceptibility to breast cancer, early onset leukemia, and Fanconi anemia. 15070707

2004
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. 9585613

1998
dbSNP: rs80359306
rs80359306
BRCA2
G 0.700 CausalMutation CLINVAR High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer. 23035815

2012
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081

2013
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Overall survival and clinical characteristics of pancreatic cancer in BRCA mutation carriers. 25072261

2014
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. 9667259

1998
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. 18489799

2008
dbSNP: rs80359306
rs80359306
BRCA2
GA 0.700 CausalMutation CLINVAR The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. 21232165

2011