BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Disease: Hereditary Breast and Ovarian Cancer Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. 25682074 2015
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. 25682074 2015
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR DNA methylation profiling to assess pathogenicity of BRCA1 unclassified variants in breast cancer. 26727311 2015
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation CLINVAR cDNA analysis of the BRCA1 unclassified variant c.5194-12G>A. 23278966 2013
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR cDNA analysis of the BRCA1 unclassified variant c.5194-12G>A. 23278966 2013
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134 2012
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		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: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation CLINVAR Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. 21673748 2011
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation CLINVAR Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. 21394826 2011
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. 21394826 2011
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes. 21673748 2011
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. 21523855 2011
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907 2011
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 CausalMutation CLINVAR Risk-reducing surgery for ovarian cancer: outcomes in 300 surgeries suggest a low peritoneal primary risk. 19367322 2009
dbSNP: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		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: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation 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: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		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: rs80358079
rs80358079
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease:
Hereditary Breast and Ovarian Cancer Syndrome 		T 0.700 GeneticVariation CLINVAR The breast cancer information core: database design, structure, and scope. 10923033 2000