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 CausalMutation CLINVAR "A new case of ""de novo"" BRCA1 mutation in a patient with early-onset breast cancer." 28265380

2017

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 CausalMutation 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 CausalMutation CLINVAR "Methylation not a frequent ""second hit"" in tumors with germline BRCA mutations." 19340607

2009

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR "Mutational spectrum in breast cancer associated 29021639

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 29339979

2018

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR BRCA2 Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer. 28283652

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A biochemical analysis demonstrates that the BRCA1 intronic variant IVS10-2A--&gt; C is a mutation. 14513821

2003

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A BRCA1 founder mutation, identified with haplotype analysis, allowing genotype/phenotype determination and predictive testing. 9616287

1997

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A BRCA1 mutation in Native North American families. 11933205

2002

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A BRCA1 variant, IVS23+1G-->A, causes abnormal RNA splicing by deleting exon 23. 11428389

2001

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A BRCA2 founder mutation and seven novel deleterious BRCA mutations in southern Chinese women with breast and ovarian cancer. 19353265

2009

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2. 9585617

1998

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A case series of three Sri Lankan families with hereditary breast and ovarian cancer syndrome due to pathogenic germline mutations in the BRCA1 gene 28390335

2017

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 GeneticVariation CLINVAR A characterization of genetic variants in BRCA1 intron 8 identifies a mutation and a polymorphism. 10479726

1999

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A clinical and genetic analysis of multiple primary cancer referrals to genetics services. 25248401

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. 7837387

1995

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. 24312913

2013

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 CausalMutation 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 CausalMutation CLINVAR A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer. 21989022

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254

2006

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A founder BRCA2 mutation in non-Afrikaner breast cancer patients of the Western Cape of South Africa. 21204799

2012

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.150 CausalMutation CLINVAR A guide for functional analysis of BRCA1 variants of uncertain significance. 22753008

2012