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 GeneticVariation CLINVAR A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. 9150151

1997

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Frequency of BRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. 10717622

2000

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Characterization of ten novel and 13 recurring BRCA1 and BRCA2 germline mutations in Italian breast and/or ovarian carcinoma patients. Mutations in brief no. 178. Online. 10660329

1998

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene. 9760198

1998

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. 24249303

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays. 19941162

2010

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases. 18645608

2008

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. 12393792

2002

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Massively Parallel Functional Analysis of BRCA1 RING Domain Variants. 25823446

2015

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR The BRCA1 S1715N mutation segregates with breast and ovarian cancer in an extended family pedigree. 22856468

2013

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. 20859677

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers. 11106241

2000

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055

2014

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Mutation screening of the BRCA1 gene in early onset and familial breast/ovarian cancer in Moroccan population. 23289006

2013

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Initiation of translation from a downstream in-frame AUG codon on BRCA1 can generate the novel isoform protein DeltaBRCA1(17aa). 10851077

2000

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR A highly accurate, low cost test for BRCA1 mutations. 10528853

1999

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1. 18992264

2009

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. 26913838

2016

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation. 10811118

2000

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. 9145677

1997

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR XIV--The chi tests. 953609

1976

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Total-genome analysis of BRCA1/2-related invasive carcinomas of the breast identifies tumor stroma as potential landscaper for neoplastic initiation. 16685647

2006

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR Comprehensive prediction of mRNA splicing effects of BRCA1 and BRCA2 variants. 21523855

2011

Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
0.700 GeneticVariation CLINVAR EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients. 21120943

2011