Heterozygous Germ Line hCHK2 Mutations in Li-Fraumeni Syndrome

The hCHK2 gene encodes the human homolog of the yeast Cds1 and Rad53 G$_2$ 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...

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Bibliographic Details

Published in:	Science (American Association for the Advancement of Science) 1999-12, Vol.286 (5449), p.2528-2531
Main Authors:	Bell, Daphne W., Varley, Jennifer M., Szydlo, Tara E., Kang, Deborah H., Doke C. R. Wahrer, Shannon, Kristen E., Lubratovich, Marcie, Verselis, Sigitas J., Isselbacher, Kurt J., Fraumeni, Joseph F., Birch, Jillian M., Li, Frederick P., Garber, Judy E., Haber, Daniel A.
Format:	Article
Language:	eng
Subjects:	Alleles Analysis Apoptosis Biological and medical sciences Brain Neoplasms - genetics Breast Neoplasms - genetics Cancer Cancer diagnosis Cell lines Checkpoint Kinase 1 Checkpoint Kinase 2 Colorectal cancer Cytology Diagnosis DNA damage Female G1 Phase G2 Phase Gene mutation Gene mutations General aspects Genes Genes, p53 Genes, Tumor Suppressor Genetic mutation Genetic Predisposition to Disease Genetics Germ cells Germ-Line Mutation hCHK2 gene Heterozygote Humans Li-Fraumeni syndrome Li-Fraumeni Syndrome - enzymology Li-Fraumeni Syndrome - genetics Li-Fraumeni Syndrome - pathology Male Medical sciences Methods Mutation Nucleotides Observations p53 gene Pedigree Polymorphism, Genetic Protein Kinases - genetics Protein-Serine-Threonine Kinases - genetics Protein-Serine-Threonine Kinases - metabolism Sarcoma Sarcoma - genetics Signal Transduction Tumor Cells, Cultured Tumors Yeast Yeasts
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