Gene: BRCA1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group 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 		0.150 GeneticVariation group CLINVAR Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation. 24489791 2014
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer. 11979449 2002
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer. 25682074 2015
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250 2001
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Toward classification of BRCA1 missense variants using a biophysical approach. 20378548 2010
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes. 27822389 2016
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR BRCA1 tumour suppression occurs via heterochromatin-mediated silencing. 21901007 2011
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases. 23536787 2013
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements. 20522429 2010
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families. 12960223 2003
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families. 22684231 2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852 2013
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group 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 		0.150 GeneticVariation group CLINVAR A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). 21990134 2012
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR BRCA1 mutations in a population-based sample of young women with breast cancer. 8531967 1996
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Evaporative water loss in box turtles: effects of rostral brainstem and other temperatures. 1111111 1975
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. 23199084 2010
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making. 27272900 2016
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Functional impact of missense variants in BRCA1 predicted by supervised learning. 17305420 2007
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR High proportion of missense mutations of the BRCA1 and BRCA2 genes in Japanese breast cancer families. 9609997 1998
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Clinical classification of BRCA1 DNA missense variants: H1686Q is a novel pathogenic mutation occurring in the ontogenetically invariant THV motif of the N-terminal BRCT domain. 18757339 2008
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Functional characterization of BRCA1 gene variants by mini-gene splicing assay. 24667779 2014
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. 16644204 2006
Entrez Id: 672
Gene Symbol: BRCA1
BRCA1 		0.150 GeneticVariation group CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441 2015