Source: ALL

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 Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory. 28408614

2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study. 28324225

2017
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Pathologic characteristics of breast parenchyma in patients with hereditary breast carcinoma, including BRCA1 and BRCA2 mutation carriers. 12491499

2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. 17851763

2008
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Racial differences in the incidence of BRCA1 and BRCA2 mutations in a cohort of early onset breast cancer patients: African American compared to white women. 15983021

2006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Marker segregation information in breast/ovarian cancer genetic counseling: is it still useful? Groupe Génétique et Cancer de la Fédération Nationale des Centres de Lutte Contre le Cancer. 9788557

1998
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer. 15133502

2004
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Breast cancer genetics in African Americans. 12491487

2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition. 15385441

2004
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis. 17308087

2007
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Thermal unfolding of human BRCA1 BRCT-domain variants. 17493881

2007
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Missense mutations in the BRCT domain of BRCA-1 from high-risk women frequently perturb strongly hydrophobic amino acids conserved among mammals. 15184261

2004
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 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
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs. 18693280

2009
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Flexible, scalable, and efficient targeted resequencing on a benchtop sequencer for variant detection in clinical practice. 25504618

2015
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden. 14746861

2004
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Mutational analysis of BRCA1 and BRCA2 and clinicopathologic analysis of ovarian cancer in 82 ovarian cancer families: two common founder mutations of BRCA1 in Japanese population. 11595708

2001
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. 21523855

2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance. 18824701

2008
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs. 21990165

2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. 21447777

2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR BRCT domains: phosphopeptide binding and signaling modules. 18508631

2008
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.150 GeneticVariation CLINVAR Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. 18951446

2008