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Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk.

dc.contributor.authorVarley, Jennifer
dc.contributor.authorHaber, Daniel A
dc.date.accessioned2009-09-23T10:21:04Z
dc.date.available2009-09-23T10:21:04Z
dc.date.issued2003
dc.identifier.citationFamilial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk. 2003, 5 (3):123-5 Breast Cancer Res.en
dc.identifier.issn1465-542X
dc.identifier.pmid12793891
dc.identifier.doi10.1186/bcr582
dc.identifier.urihttp://hdl.handle.net/10541/82274
dc.description.abstractGermline mutations in the human checkpoint gene, hCHK2, were first identified in 1999 in cases of Li-Fraumeni syndrome. Recent studies have demonstrated that the hCHK2 1100delC mutation acts as a low-penetrance tumour suppressor gene in familial breast cancer not associated with mutations in BRCA1 or BRCA2. The present article describes the published studies on hCHK2 1100delC and addresses some of the key questions raised.
dc.language.isoenen
dc.subjectBreast Canceren
dc.subjectTumour Suppressor Genesen
dc.subject.meshBase Sequence
dc.subject.meshBreast Neoplasms
dc.subject.meshCytosine
dc.subject.meshGenes, Tumor Suppressor
dc.subject.meshHumans
dc.subject.meshProtein Kinases
dc.subject.meshProtein-Serine-Threonine Kinases
dc.subject.meshRisk Factors
dc.subject.meshSequence Deletion
dc.titleFamilial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk.en
dc.typeArticleen
dc.contributor.departmentCR-UK Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK. jvarley@picr.man.ac.uken
dc.identifier.journalBreast Cancer Researchen
html.description.abstractGermline mutations in the human checkpoint gene, hCHK2, were first identified in 1999 in cases of Li-Fraumeni syndrome. Recent studies have demonstrated that the hCHK2 1100delC mutation acts as a low-penetrance tumour suppressor gene in familial breast cancer not associated with mutations in BRCA1 or BRCA2. The present article describes the published studies on hCHK2 1100delC and addresses some of the key questions raised.


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