×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
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
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.
27533158 2016
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
26358404 2015
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.
26358404 2015
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
GeneticVariation
CLINVAR
Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.
24733792 2014
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
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
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
A common nonsense mutation of the BLM gene and prostate cancer risk and survival.
24096176 2013
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
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
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Bloom syndrome in short children born small for gestational age: a challenging diagnosis.
23928670 2013
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Heterozygosity for the BLM(Ash) mutation and cancer risk.
12702560 2003
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
BLM heterozygosity and the risk of colorectal cancer.
12242432 2002
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Functional interaction of p53 and BLM DNA helicase in apoptosis.
11399766 2001
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews.
10090915 1999
×
Entrez Id: 641
Gene Symbol: BLM
BLM
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
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
Neoplastic Syndromes, Hereditary
0.100
CausalMutation
CLINVAR
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.
9837821 1998