Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900

2016
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913

2015
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Hereditary breast cancer in the Han Chinese population. 23318652

2013
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence and characterization of BRCA1 and BRCA2 germline mutations in Chinese women with familial breast cancer. 21614564

2012
dbSNP: rs80357069
rs80357069
BRCA1
A 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: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548

2010
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1 germline mutations and tumor characteristics in Chinese women with familial or early-onset breast cancer. 18512148

2009
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. 18992264

2009
dbSNP: rs80357069
rs80357069
BRCA1
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: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. 17308087

2007
dbSNP: rs80357069
rs80357069
BRCA1
A 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: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Classification of Missense Mutations of Disease Genes. 18418466

2005
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Classification of BRCA1 missense variants of unknown clinical significance. 15689452

2005
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. 15172985

2004
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay. 15004537

2004
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. 15235020

2004
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Molecular evidence for putative tumour suppressor genes on chromosome 13q specific to BRCA1 related ovarian and fallopian tube cancer. 12354934

2002
dbSNP: rs80357069
rs80357069
BRCA1
A 0.700 CausalMutation CLINVAR Frequency of germline and somatic BRCA1 mutations in ovarian cancer. 9796975

1998