Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing. 25366421

2015
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania. 25066507

2014
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR Geographical distribution of Slovenian BRCA1/2 families according to family origin: implications for genetic screening. 23397983

2014
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. 24312913

2013
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families. 22923021

2012
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. 21232165

2011
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 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: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. 18824701

2008
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR High frequency of BRCA1/2 germline mutations in consecutive ovarian cancer patients in Poland. 17997147

2008
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 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: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. 17148771

2006
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. 16168118

2005
dbSNP: rs397515636
rs397515636
BRCA2
CTGCT 0.700 CausalMutation CLINVAR BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease. 10978364

2000