Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. 23658460

2013
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. 22430266

2012
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ. 22009639

2012
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes. 22703879

2012
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation. 20887823

2011
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. 23199084

2010
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations. 19188187

2009
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2. 18607349

2008
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. 15695382

2005
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies. 15994883

2005
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Truncated BRCA2 is cytoplasmic: implications for cancer-linked mutations. 10570174

1999
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. 9145676

1997
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. 8673092

1996
dbSNP: rs80359550
rs80359550
BRCA2
G 0.700 CausalMutation CLINVAR BRCA2 germline mutations in male breast cancer cases and breast cancer families. 8673091

1996