BLM, BLM RecQ like helicase, 641

N. diseases: 158; N. variants: 139
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients. 26822949 2016
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. 27153395 2016
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 26358404 2015
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe. 25182961 2015
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia. 25410042 2014
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation 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
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A common nonsense mutation of the BLM gene and prostate cancer risk and survival. 24096176 2013
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. 23225144 2013
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. 23552953 2013
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. 21815139 2012
dbSNP: rs200389141
rs200389141
Entrez Id: 641
Gene Symbol: BLM
BLM
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 17407155 2007