Gene: BLM

Alternate names for this Gene: BS|MGRISCE1|RECQ2|RECQL2|RECQL3

Gene Summary: The Bloom syndrome is an autosomal recessive disorder characterized by growth deficiency, microcephaly and immunodeficiency among others. It is caused by homozygous or compound heterozygous mutation in the gene encoding DNA helicase RecQ protein on chromosome 15q26. This Bloom-associated helicase unwinds a variety of DNA substrates including Holliday junction, and is involved in several pathways contributing to the maintenance of genome stability. Identification of pathogenic Bloom variants is required for heterozygote testing in at-risk families.

Gene is located in Chromosome: 15

Location in Chromosome : 15q26.1

Description of this Gene: BLM RecQ like helicase

Type of Gene: protein-coding

rs1057516261 in BLM gene and Bloom Syndrome PMID 27657136 2016 Regulation of BLM Nucleolar Localization.

PMID 9388480 1997 BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal.

PMID 10569803 1999 Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase.

PMID 18471088 2008 Three new BLM gene mutations associated with Bloom syndrome.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 17407155 2007 Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

PMID 29098565 2018 Immunodeficiency in Bloom's Syndrome.

PMID 27356891 2016 Undefined familial colorectal cancer and the role of pleiotropism in cancer susceptibility genes.

PMID 9758720 1998 Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population.

PMID 9837821 1998 The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

PMID 23225144 2013 Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

PMID 7585968 1995 The Bloom's syndrome gene product is homologous to RecQ helicases.

PMID 10521302 1999 Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal.

PMID 9285778 1997 Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome.

PMID 10862105 2000 Identification of a novel BLM missense mutation (2706T>C) in a Moroccan patient with Bloom's syndrome.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 24733792 2014 Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

PMID 26358404 2015 Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.

PMID 26247052 2015 A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.

PMID 25129257 2014 A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members.

PMID 23552953 2013 Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.

PMID 24096176 2013 BLM Q548X is a common founder mutation in Poland.

PMID 25182961 2015 Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe.

PMID 23225144 2013 Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

PMID 25399228 2014 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.

PMID 26340805 2016 Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings.

PMID 28611551 2017 First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis.

PMID 24448499 2014 Integrated analysis of germline and somatic variants in ovarian cancer.

PMID 10069810 1999 The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.

PMID 9840919 1998 Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein.

PMID 25850943 2015 Uncovering the genomic heterogeneity of multifocal breast cancer.

PMID 27959697 2017 Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

PMID 23028338 2012 Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

PMID 10965492 2000 Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain.

PMID 17878217 2007 Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein.

PMID 29439820 2018 Germline DNA-repair Gene Mutations and Outcomes in Men with Metastatic Castration-resistant Prostate Cancer Receiving First-line Abiraterone and Enzalutamide.

PMID 26556299 2016 Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.

PMID 24932421 2013 Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome.

PMID 26546047 2016 Candidate DNA repair susceptibility genes identified by exome sequencing in high-risk pancreatic cancer.

PMID 22885301 2012 Multimeric BLM is dissociated upon ATP hydrolysis and functions as monomers in resolving DNA structures.

PMID 12444098 2002 The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis.

PMID 10812332 2000 Elevation of sister chromatid exchange in Saccharomyces cerevisiae sgs1 disruptants and the relevance of the disruptants as a system to evaluate mutations in Bloom's syndrome gene.

PMID 23276657 2015 Disease-causing missense mutations in human DNA helicase disorders.

PMID 22582397 2012 The Q motif of Fanconi anemia group J protein (FANCJ) DNA helicase regulates its dimerization, DNA binding, and DNA repair function.

PMID 15579905 2005 Human Bloom protein stimulates flap endonuclease 1 activity by resolving DNA secondary structure.

PMID 27175728 2016 Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.

PMID 24118499 2014 Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome.

PMID 10734115 2000 The Bloom's syndrome gene product interacts with topoisomerase III.

PMID 21113733 2011 Critical interaction domains between bloom syndrome protein and RAD51.

PMID 10090915 1999 Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews.

PMID 26788541 2016 Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM.

PMID 12242432 2002 BLM heterozygosity and the risk of colorectal cancer.

rs11073953 in BLM gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs113993962 in BLM gene and Neoplastic Syndromes, Hereditary PMID 24096176 2013 A common nonsense mutation of the BLM gene and prostate cancer risk and survival.

PMID 21815139 2012 High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.

PMID 9482582 1998 A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene.

PMID 7585968 1995 The Bloom's syndrome gene product is homologous to RecQ helicases.

PMID 12702560 2003 Heterozygosity for the BLM(Ash) mutation and cancer risk.

PMID 9837821 1998 The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.

PMID 17407155 2007 Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.

PMID 12242432 2002 BLM heterozygosity and the risk of colorectal cancer.

PMID 23225144 2013 Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.

PMID 10090915 1999 Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews.

PMID 15726604 2005 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.

PMID 24733792 2014 Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.

PMID 26358404 2015 Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 25410042 2014 The frequency of the BLM*p.Q548X (c.1642C > T) mutation in breast cancer patients from Russia.

PMID 25399228 2014 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.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 25182961 2015 Prevalence of the BLM nonsense mutation, p.Q548X, in ovarian cancer patients from Central and Eastern Europe.

PMID 26822949 2016 Hereditary truncating mutations of DNA repair and other genes in BRCA1/BRCA2/PALB2-negatively tested breast cancer patients.

PMID 23552953 2013 Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.

PMID 11399766 2001 Functional interaction of p53 and BLM DNA helicase in apoptosis.

PMID 10069810 1999 The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells.

PMID 27533158 2016 Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.

PMID 23928670 2013 Bloom syndrome in short children born small for gestational age: a challenging diagnosis.

PMID 23028338 2012 Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

PMID 26247052 2015 A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.