2.50
Hdl Handle:
http://hdl.handle.net/10541/90782
Title:
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
Authors:
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; Birch, Jillian M; Li, F P; Garber, J E; Haber, Daniel A
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.
Affiliation:
Massachusetts General Hospital Center for Cancer Risk Analysis and Harvard Medical School, Building 149, Charlestown, MA 02129, USA.
Citation:
Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 1999, 286 (5449):2528-31 Science
Journal:
Science
Issue Date:
24-Dec-1999
URI:
http://hdl.handle.net/10541/90782
DOI:
10.1126/science.286.5449.2528
PubMed ID:
10617473
Type:
Article
Language:
en
ISSN:
0036-8075
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorBell, D Wen
dc.contributor.authorVarley, Jenniferen
dc.contributor.authorSzydlo, T Een
dc.contributor.authorKang, D Hen
dc.contributor.authorWahrer, D Cen
dc.contributor.authorShannon, K Een
dc.contributor.authorLubratovich, Men
dc.contributor.authorVerselis, S Jen
dc.contributor.authorIsselbacher, K Jen
dc.contributor.authorFraumeni, J Fen
dc.contributor.authorBirch, Jillian Men
dc.contributor.authorLi, F Pen
dc.contributor.authorGarber, J Een
dc.contributor.authorHaber, Daniel Aen
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.en
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

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