Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897743
rs28897743
C 0.700 CausalMutation CLINVAR Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results. 28008555

2017

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients. 26968956

2016

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970

2015

dbSNP: rs28897743
rs28897743
C 0.700 CausalMutation CLINVAR BRCA1 germline mutations may be associated with reduced ovarian reserve. 25256924

2014

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR Novel and recurrent BRCA2 mutations in Italian breast/ovarian cancer families widen the ovarian cancer cluster region boundaries to exons 13 and 14. 25395318

2014

dbSNP: rs28897743
rs28897743
T 0.700 GeneticVariation CLINVAR Cycling with BRCA2 from DNA repair to mitosis. 25447315

2014

dbSNP: rs28897743
rs28897743
C 0.700 CausalMutation CLINVAR The clinical phenotype of children with Fanconi anemia caused by biallelic FANCD1/BRCA2 mutations. 21548014

2012

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan. 22486713

2012

dbSNP: rs28897743
rs28897743
C 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: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers. 22430266

2012

dbSNP: rs28897743
rs28897743
C 0.700 CausalMutation CLINVAR Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel. 22399190

2012

dbSNP: rs28897743
rs28897743
A 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: rs28897743
rs28897743
C 0.700 CausalMutation CLINVAR Expression of cancer testis antigens in human BRCA-associated breast cancers: potential targets for immunoprevention? 21465317

2011

dbSNP: rs28897743
rs28897743
T 0.700 GeneticVariation CLINVAR A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596

2011

dbSNP: rs28897743
rs28897743
C 0.700 CausalMutation CLINVAR Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel. 20960228

2011

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596

2011

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2. 22460208

2010

dbSNP: rs28897743
rs28897743
C 0.700 CausalMutation CLINVAR A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. 20215541

2010

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients. 20215541

2010

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR Functional assays for classification of BRCA2 variants of uncertain significance. 18451181

2008

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. 18489799

2008

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients. 17453335

2008

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. 17924331

2007

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13. 16792514

2006

dbSNP: rs28897743
rs28897743
A 0.700 CausalMutation CLINVAR Childhood cancer in families with and without BRCA1 or BRCA2 mutations ascertained at a high-risk breast cancer clinic. 16931905

2006