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Heterozygous Germ Line hCHK2 Mutations in Li-Fraumeni Syndrome

Science  24 Dec 1999:
Vol. 286, Issue 5449, pp. 2528-2531
DOI: 10.1126/science.286.5449.2528

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Abstract

The hCHK2 gene encodes the human homolog of the yeast Cds1 and Rad53 G2 checkpoint kinases, whose activation in response to DNA damage prevents cellular entry into mitosis. Here, it is shown that heterozygous germ line mutations in hCHK2occur in Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in theTP53 gene. These observations suggest that hCHK2is a tumor suppressor gene conferring predisposition to sarcoma, breast cancer, and brain tumors, and they also provide a link between the central role of p53 inactivation in human cancer and the well-defined G2 checkpoint in yeast.

  • * These authors contributed equally to this work.

  • To whom correspondence should be addressed. E-mail: Haber{at}helix.mgh.harvard.edu

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