GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

TableEdit

Jump to: navigation, search

PMID:10617473

You don't have sufficient rights on this wiki to edit tables. Perhaps you need to log in. Changes you make in the Table editor will not be saved back to the wiki

See Help for Help on this wiki. See the documentation for how to use the table editor

Citation

Bell, DW, Varley, JM, Szydlo, TE, Kang, DH, Wahrer, DC, Shannon, KE, Lubratovich, M, Verselis, SJ, Isselbacher, KJ, Fraumeni, JF, Birch, JM, Li, FP, Garber, JE and Haber, DA (1999) Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. Science 286:2528-31

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.

Links

PubMed

Keywords

Alleles; Apoptosis; Brain Neoplasms/genetics; Breast Neoplasms/genetics; Female; G1 Phase; G2 Phase; Genes, Tumor Suppressor; Genes, p53; Genetic Predisposition to Disease; Germ-Line Mutation; Heterozygote; Humans; Li-Fraumeni Syndrome/enzymology; Li-Fraumeni Syndrome/genetics; Li-Fraumeni Syndrome/pathology; Male; Pedigree; Polymorphism, Genetic; Protein Kinases/genetics; Protein-Serine-Threonine Kinases/genetics; Protein-Serine-Threonine Kinases/metabolism; Sarcoma/genetics; Signal Transduction; Tumor Cells, Cultured

public



Cancel