Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357569
rs80357569
BRCA1
CT 0.700 CausalMutation CLINVAR First description of a double heterozygosity for BRCA1 and BRCA2 pathogenic variants in a French metastatic breast cancer patient: A case report. 28184945

2017
dbSNP: rs80357569
rs80357569
BRCA1
CT 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017
dbSNP: rs80357569
rs80357569
BRCA1
CT 0.700 CausalMutation CLINVAR Mutation detection rates associated with specific selection criteria for BRCA1/2 testing in 1854 high-risk families: A monocentric Italian study. 27062684

2016
dbSNP: rs80357569
rs80357569
BRCA1
CT 0.700 CausalMutation CLINVAR Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. 23289006

2013
dbSNP: rs80357569
rs80357569
BRCA1
CT 0.700 CausalMutation CLINVAR Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. 23199084

2010
dbSNP: rs80357569
rs80357569
BRCA1
CT 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: rs80357569
rs80357569
BRCA1
CT 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. 15024741

2004
dbSNP: rs80357569
rs80357569
BRCA1
C 0.700 CausalMutation CLINVAR Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic. 12566964

2003
dbSNP: rs80357569
rs80357569
BRCA1
C 0.700 CausalMutation CLINVAR Detection of the most frequent mutations in BRCA1 gene on polyacrylamide gels containing Spreadex Polymer NAB. 12937835

2003
dbSNP: rs80357569
rs80357569
BRCA1
CT 0.700 CausalMutation CLINVAR Penetrances of BRCA1 1675delA and 1135insA with respect to breast cancer and ovarian cancer. 10441573

1999
dbSNP: rs80357569
rs80357569
BRCA1
C 0.700 CausalMutation CLINVAR Rapid detection of BRCA1 mutations by the protein truncation test. 7663517

1995
dbSNP: rs80357569
rs80357569
BRCA1
CT 0.700 CausalMutation CLINVAR Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. 7894492

1994