Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. 12473589

2002

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population. 21603858

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Missense mutations of BRCA1 gene affect the binding with p53 both in vitro and in vivo. 16969499

2006

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families. 16847550

2006

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Genetic diagnosis of familial breast cancer using clonal sequencing. 20127978

2010

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin. 19123044

2009

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR A new BRCA1 mutation in a Filipino woman with a family history of breast and ovarian cancer. 9836072

1998

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR BRCA1 genetic testing in 106 breast and ovarian cancer families from Southern Italy (Sicily): a mutation analyses. 17221156

2007

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Mutation screening of RAD51C in high-risk breast and ovarian cancer families. 22476429

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081

2013

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. 25682074

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR BRCA1/BRCA2 mutation status and clinical-pathologic features of 108 male breast cancer cases from Tuscany: a population-based study in central Italy. 18819001

2009

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene. 18424508

2008

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Histopathological features of 'BRCAX' familial breast cancers in the kConFab resource. 18446624

2008

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. 22713736

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia. 17080309

2007

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing. 25893891

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Saturation editing of genomic regions by multiplex homology-directed repair. 25141179

2014

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
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

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families. 18312450

2008

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Contribution of germline BRCA1 and BRCA2 sequence alterations to breast cancer in Northern India. 17018160

2006

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 CausalMutation CLINVAR Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. 12672316

2003

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Specific changes in the proteomic pattern produced by the BRCA1-Ser1841Asn missense mutation. 17005433

2007