Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897759
rs28897759
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
T 0.700 CausalMutation CLINVAR Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care. 26786923

2016

dbSNP: rs28897759
rs28897759
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
T 0.700 CausalMutation CLINVAR Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases. 25782689

2015

dbSNP: rs28897759
rs28897759
T 0.700 CausalMutation CLINVAR Concurrent DNA Copy-Number Alterations and Mutations in Genes Related to Maintenance of Genome Stability in Uninvolved Mammary Glandular Tissue from Breast Cancer Patients. 26219265

2015

dbSNP: rs28897759
rs28897759
T 0.700 CausalMutation CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913

2015

dbSNP: rs28897759
rs28897759
T 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441

2015

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

2014

dbSNP: rs28897759
rs28897759
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
T 0.700 CausalMutation CLINVAR Pyrimidine base damage is increased in women with BRCA mutations. 23583677

2013

dbSNP: rs28897759
rs28897759
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
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
T 0.700 CausalMutation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134

2012

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

2012

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

2011

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

2011

dbSNP: rs28897759
rs28897759
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
T 0.700 CausalMutation CLINVAR Age at onset of bilateral breast cancer, the presence of hereditary BRCA1, BRCA2, CHEK2 gene mutations and positive family history of cancer. 19372713

2009

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

2008

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

2008

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

2005

dbSNP: rs28897759
rs28897759
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
T 0.700 CausalMutation CLINVAR Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection. 11452040

2001