Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy. 26852130

2016
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR Central European BRCA2 mutation carriers: birth cohort status correlates with onset of breast cancer. 24156927

2014
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening. 23397983

2014
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR "BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the ""BRCA paradox""?" 22984553

2012
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. 22923021

2012
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants. 22505045

2012
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. 21232165

2011
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR Selecting for BRCA1 testing using a combination of homogeneous selection criteria and immunohistochemical characteristics of breast cancers. 19818148

2009
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR BRCA2 gene mutations in Slovenian male breast cancer patients. 18439106

2008
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families. 18783588

2008
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR The prevalence of BRCA2 mutations in familial pancreatic cancer. 17301269

2007
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR Phenotypic features and genetic characterization of male breast cancer families: identification of two recurrent BRCA2 mutations in north-east of Italy. 16764716

2006
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutations. 15340362

2004
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR BRCA2 founder mutation in Slovenian breast cancer families. 12461697

2002
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. 12097290

2002
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 genes: role in hereditary breast and ovarian cancer in Italy. 10449599

1999
dbSNP: rs81002836
rs81002836
BRCA2
G 0.700 GeneticVariation CLINVAR