Enhanced Tumor Formation in Mice Heterozygous for Blm Mutation

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Science  20 Sep 2002:
Vol. 297, Issue 5589, pp. 2051-2053
DOI: 10.1126/science.1074340

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Persons with the autosomal recessive disorder Bloom syndrome are predisposed to cancers of many types due to loss-of-function mutations in the BLM gene, which encodes a recQ-like helicase. Here we show that mice heterozygous for a targeted null mutation ofBlm, the murine homolog of BLM, develop lymphoma earlier than wild-type littermates in response to challenge with murine leukemia virus and develop twice the number of intestinal tumors when crossed with mice carrying a mutation in the Apctumor suppressor. These observations indicate that Blmis a modifier of tumor formation in the mouse and that Blmhaploinsufficiency is associated with tumor predisposition, a finding with important implications for cancer risk in humans.

  • * Present address: Department of Surgery, Division of Epithelial Pathobiology, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA.

  • To whom correspondence should be addressed. E-mail: Joanna.Groden{at}

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