Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target site. 22753153

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. 15172985

2004

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Identifying the effects of BRCA1 mutations on homologous recombination using cells that express endogenous wild-type BRCA1. 21372787

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer. 25556971

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR The BRCA1 ubiquitin ligase and homologous recombination repair. 21570976

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Molecular analysis of the BRCA1 and BRCA2 genes in 32 breast and/or ovarian cancer Spanish families. 10755399

2000

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Prediction of mutant mRNA splice isoforms by information theory-based exon definition. 23348723

2013

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR "BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the ""BRCA paradox""?" 22984553

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR BRCA1 and BRCA2 mutations in Danish families with hereditary breast and/or ovarian cancer. 18465347

2008

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance. 28781887

2016

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR A missense variant within BRCA1 exon 23 causing exon skipping. 20875879

2010

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Comparative in vitro and in silico analyses of variants in splicing regions of BRCA1 and BRCA2 genes and characterization of novel pathogenic mutations. 23451180

2013

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families. 8968102

1996

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer. 22277901

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Identification of germline alterations in breast cancer predisposition genes among Malaysian breast cancer patients using panel testing. 26757417

2016

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Structural basis for cell cycle checkpoint control by the BRCA1-CtIP complex. 16101277

2005

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Structure-Function Of The Tumor Suppressor BRCA1. 22737296

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia. 21203900

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations. 26046366

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Targeting the DNA double strand breaks repair for cancer therapy. 20423312

2010

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR The P1812A and P25T BRCA1 and the 5164del4 BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews. 17020472

2006

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. 9333265

1997

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 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

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Identification of missense and truncating mutations in the BRCA1 gene in sporadic and familial breast and ovarian cancer. 9523200

1998

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population. 26221963

2015