Article
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
Science (New York, N.Y.) - 24 Dec 1999
Bell D W, Varley J M, Szydlo T E, Kang D H, Wahrer D C, Shannon K E, Lubratovich M, Verselis S J, Isselbacher K J, Fraumeni J F, Birch J M, Li F P, Garber J E, Haber D A
Abstract excerpt
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 hCHK2 occur in Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in the TP53 gene. These observations suggest that hCHK2 is...
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