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Science 20 September 2002: Vol. 297. no. 5589, pp. 2051 - 2053 DOI: 10.1126/science.1074340
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Reports
Enhanced Tumor Formation in Mice Heterozygous for Blm Mutation
Kathleen Heppner Goss,
Mary A. Risinger,
Jennifer J. Kordich,
Maureen M. Sanz,
Joel E. Straughen,
Lisa E. Slovek,
Anthony J. Capobianco,
James German,
Gregory P. Boivin,
Joanna Groden
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.
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Science
297, 2013
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