Bloom syndrome (often abbreviated as BS in literature), is a rare autosomal recessive disorder characterized by short stature, predisposition to the development of cancer, and genomic instability. BS is caused by mutations in the BLM gene which is a member of the RecQ DNA helicase family. Mutations in other members of this family, namely WRN and REQL4, are associated with the clinical entities Werner syndrome and Rothman-Thompson syndrome, respectively. More broadly, Bloom syndrome is a member of a class of clinical entities that are characterized by chromosomal instability, genomic instability, or both and by cancer predisposition.
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Journal of Cancer Biology and Clinical Oncology 