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PMID:10617473

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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

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:CHK2

involved_in

GO:0000077: DNA damage checkpoint

ECO:0000304: author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete


See also

References

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