×
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
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
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
BLM heterozygosity and the risk of colorectal cancer.
12242432
2002
×
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
Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews.
10090915
1999
×
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
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
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
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
Functional interaction of p53 and BLM DNA helicase in apoptosis.
11399766
2001
×
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
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.
9837821
1998
×
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
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
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
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
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
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
The Bloom's syndrome gene product is homologous to RecQ helicases.
7585968
1995
×
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
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
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
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
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene.
9482582
1998