Gene: BLM ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949 2016
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. 27533158 2016
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 26358404 2015
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility. 26247052 2015
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe. 25182961 2015
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 GeneticVariation group CLINVAR Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 26358404 2015
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 GeneticVariation group CLINVAR Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment. 24733792 2014
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population. 25399228 2014
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia. 25410042 2014
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR A common nonsense mutation of the BLM gene and prostate cancer risk and survival. 24096176 2013
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. 23552953 2013
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. 23225144 2013
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Bloom syndrome in short children born small for gestational age: a challenging diagnosis. 23928670 2013
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. 23028338 2012
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. 21815139 2012
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155 2007
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. 15726604 2005
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Heterozygosity for the BLM(Ash) mutation and cancer risk. 12702560 2003
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR BLM heterozygosity and the risk of colorectal cancer. 12242432 2002
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Functional interaction of p53 and BLM DNA helicase in apoptosis. 11399766 2001
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. 10090915 1999
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. 10069810 1999
Entrez Id: 641
Gene Symbol: BLM
BLM 		0.100 CausalMutation group CLINVAR The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. 9837821 1998