Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR Gene panel sequencing in familial breast/ovarian cancer patients identifies multiple novel mutations also in genes others than BRCA1/2. 27616075

2017
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland. 26843898

2016
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing. 25948282

2015
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance. 24728577

2014
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes. 25085752

2014
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR Functional assays for analysis of variants of uncertain significance in BRCA2. 24323938

2014
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity. 23108138

2013
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR Three novel BRCA1/BRCA2 mutations in breast/ovarian cancer families in Croatia. 22366370

2012
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay. 22678057

2012
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR A 24-color metaphase-based radiation assay discriminates heterozygous BRCA2 mutation carriers from controls by chromosomal radiosensitivity. 22729890

2012
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. 21232165

2011
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes. 21965345

2011
dbSNP: rs28897759
rs28897759
BRCA2
T 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: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland. 20383589

2010
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR Computational and structural investigation of deleterious functional SNPs in breast cancer BRCA2 gene. 18724707

2008
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR The relative contribution of point mutations and genomic rearrangements in BRCA1 and BRCA2 in high-risk breast cancer families. 18703817

2008
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios. 19043619

2008
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases. 16284991

2005
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR BRCA2 mutations and androgen receptor expression as independent predictors of outcome of male breast cancer patients. 14555518

2003
dbSNP: rs28897759
rs28897759
BRCA2
T 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: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR BRCA2 germline mutations in male breast cancer patients in the Polish population. 11139248

2001
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 CausalMutation CLINVAR High frequency of recurrent mutations in BRCA1 and BRCA2 genes in Polish families with breast and ovarian cancer. 11102977

2000
dbSNP: rs28897759
rs28897759
BRCA2
T 0.700 GeneticVariation CLINVAR