Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil. 26656232

2016

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 mutations in unselected breast cancer patients from medellín, Colombia. 24742220

2014

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence. 23479189

2013

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia. 22044689

2012

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Recurrent germline mutations in BRCA1 and BRCA2 genes in high risk families in Israel. 22399190

2012

dbSNP: rs28897696
rs28897696
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: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. 21520273

2011

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Germline mutations in BRCA1 and BRCA2 genes in ethnically diverse high risk families in Israel. 20960228

2011

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Two BRCA1/2 founder mutations in Jews of Sephardic origin. 21063910

2011

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR The c.5242C>A BRCA1 missense variant induces exon skipping by increasing splicing repressors binding. 19404736

2010

dbSNP: rs28897696
rs28897696
T 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: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? 18036263

2007

dbSNP: rs28897696
rs28897696
T 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: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. 17080309

2007

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420

2007

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. 15923272

2006

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR High proportion of novel mutations of BRCA1 and BRCA2 in breast/ovarian cancer patients from Castilla-León (central Spain). 16758124

2006

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036

2005

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. 12955716

2003

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR A novel tricomplex of BRCA1, Nmi, and c-Myc inhibits c-Myc-induced human telomerase reverse transcriptase gene (hTERT) promoter activity in breast cancer. 11916966

2002

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: implications for genetic testing. 11802208

2002

dbSNP: rs28897696
rs28897696
T 0.700 CausalMutation CLINVAR Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families. 11157798

2001