Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 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: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Assessment of functional effects of unclassified genetic variants. 18951449

2008
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 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: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970

2015
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay. 21719596

2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin. 22855649

2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). 22762150

2012
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Comprehensive mutational analysis of BRCA1/BRCA2 for Korean breast cancer patients: evidence of a founder mutation. 19656164

2009
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. 9537232

1998
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing. 27273131

2016
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. 9609997

1998
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO). 22762150

2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination. 20103620

2010
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 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: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil. 27914478

2016
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Thermal unfolding of human BRCA1 BRCT-domain variants. 17493881

2007
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR The BRCA1 C-terminal domain: structure and function. 10946236

2000
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Cancer variation associated with the position of the mutation in the BRCA2 gene. 15131399

2004
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900

2016
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333

2011
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Novel germline mutations in BRCA2 gene among breast and breast-ovarian cancer families from Poland. 20383589

2010
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines. 23893897

2013
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		0.800 GeneticVariation CLINVAR Detection of BRCA1 and BRCA2 mutations in breast cancer families by a comprehensive two-stage screening procedure. 10699917

2000