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Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.

dc.contributor.authorBell, D W
dc.contributor.authorVarley, Jennifer
dc.contributor.authorSzydlo, T E
dc.contributor.authorKang, D H
dc.contributor.authorWahrer, D C
dc.contributor.authorShannon, K E
dc.contributor.authorLubratovich, M
dc.contributor.authorVerselis, S J
dc.contributor.authorIsselbacher, K J
dc.contributor.authorFraumeni, J F
dc.contributor.authorBirch, Jillian M
dc.contributor.authorLi, F P
dc.contributor.authorGarber, J E
dc.contributor.authorHaber, Daniel A
dc.date.accessioned2010-01-28T10:20:16Z
dc.date.available2010-01-28T10:20:16Z
dc.date.issued1999-12-24
dc.identifier.citationHeterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 1999, 286 (5449):2528-31 Scienceen
dc.identifier.issn0036-8075
dc.identifier.pmid10617473
dc.identifier.doi10.1126/science.286.5449.2528
dc.identifier.urihttp://hdl.handle.net/10541/90782
dc.description.abstractThe 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.
dc.language.isoenen
dc.subjectBrain Canceren
dc.subjectBreast Canceren
dc.subjectTumour Suppressor Genesen
dc.subjectCultured Tumour Cellsen
dc.subject.meshAlleles
dc.subject.meshApoptosis
dc.subject.meshBrain Neoplasms
dc.subject.meshBreast Neoplasms
dc.subject.meshFemale
dc.subject.meshG1 Phase
dc.subject.meshG2 Phase
dc.subject.meshGenes, Tumor Suppressor
dc.subject.meshGenes, p53
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshGerm-Line Mutation
dc.subject.meshHeterozygote
dc.subject.meshHumans
dc.subject.meshLi-Fraumeni Syndrome
dc.subject.meshMale
dc.subject.meshPedigree
dc.subject.meshPolymorphism, Genetic
dc.subject.meshProtein Kinases
dc.subject.meshProtein-Serine-Threonine Kinases
dc.subject.meshSarcoma
dc.subject.meshSignal Transduction
dc.subject.meshTumor Cells, Cultured
dc.titleHeterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.en
dc.typeArticleen
dc.contributor.departmentMassachusetts General Hospital Center for Cancer Risk Analysis and Harvard Medical School, Building 149, Charlestown, MA 02129, USA.en
dc.identifier.journalScienceen
html.description.abstractThe 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.


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