Enhanced tumor formation in mice heterozygous for Blm mutation

Science. 2002 Sep 20;297(5589):2051-3. doi: 10.1126/science.1074340.

Abstract

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 of Blm, 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 Apc tumor suppressor. These observations indicate that Blm is a modifier of tumor formation in the mouse and that Blm haploinsufficiency is associated with tumor predisposition, a finding with important implications for cancer risk in humans.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenoma / genetics
  • Adenoma / pathology
  • Adenosine Triphosphatases / genetics*
  • Alleles
  • Animals
  • Bloom Syndrome / genetics*
  • Cells, Cultured
  • Crosses, Genetic
  • DNA Helicases / genetics*
  • Female
  • Gene Targeting
  • Genes, APC
  • Genetic Predisposition to Disease*
  • Heterozygote*
  • Humans
  • Intestinal Neoplasms / genetics*
  • Intestinal Neoplasms / pathology
  • Leukemia Virus, Murine
  • Loss of Heterozygosity
  • Lymphoma, T-Cell / genetics*
  • Lymphoma, T-Cell / virology
  • Male
  • Mice
  • Mice, Inbred C57BL
  • Mutation
  • RecQ Helicases
  • Sister Chromatid Exchange

Substances

  • Adenosine Triphosphatases
  • Bloom syndrome protein
  • DNA Helicases
  • RecQ Helicases