Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas. 24240112

2014
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013
dbSNP: rs41293463
rs41293463
BRCA1
C 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: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. 22034289

2012
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR A guide for functional analysis of BRCA1 variants of uncertain significance. 22753008

2012
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases. 22144684

2012
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Characteristics of triple-negative breast cancer in patients with a BRCA1 mutation: results from a population-based study of young women. 22010008

2011
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling. 21520273

2011
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Mutations in the BRCT binding site of BRCA1 result in hyper-recombination. 21666281

2011
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs41293463
rs41293463
BRCA1
C 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: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Breast cancer in young women (YBC): prevalence of BRCA1/2 mutations and risk of secondary malignancies across diverse racial groups. 19491284

2009
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Characterisation of gene expression profiles of yeast cells expressing BRCA1 missense variants. 19493677

2009
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. 18285836

2008
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. 17308087

2007
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR ATM activation by ionizing radiation requires BRCA1-associated BAAT1. 16452482

2006
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex. 16101277

2005
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Classification of BRCA1 missense variants of unknown clinical significance. 15689452

2005
dbSNP: rs41293463
rs41293463
BRCA1
C 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: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling. 15125843

2004
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR BRCT repeats as phosphopeptide-binding modules involved in protein targeting. 14576432

2003
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003
dbSNP: rs41293463
rs41293463
BRCA1
C 0.700 CausalMutation CLINVAR Structural consequences of a cancer-causing BRCA1-BRCT missense mutation. 12427738

2003