Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
Bell, D W Varley, Jennifer Szydlo, T E Kang, D H Wahrer, D C Shannon, K E Lubratovich, M Verselis, S J Isselbacher, K J Fraumeni, J F
Bell, D W
Varley, Jennifer
Szydlo, T E
Kang, D H
Wahrer, D C
Shannon, K E
Lubratovich, M
Verselis, S J
Isselbacher, K J
Fraumeni, J F
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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 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 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.
Description
Date
1999-12-24
Publisher
Collections
Keywords
Brain Cancer
Breast Cancer
Tumour Suppressor Genes
Cultured Tumour Cells
Breast Cancer
Tumour Suppressor Genes
Cultured Tumour Cells
Type
Article
Citation
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 1999, 286 (5449):2528-31 Science