Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk.
dc.contributor.author | Varley, Jennifer | |
dc.contributor.author | Haber, Daniel A | |
dc.date.accessioned | 2009-09-23T10:21:04Z | |
dc.date.available | 2009-09-23T10:21:04Z | |
dc.date.issued | 2003 | |
dc.identifier.citation | Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk. 2003, 5 (3):123-5 Breast Cancer Res. | en |
dc.identifier.issn | 1465-542X | |
dc.identifier.pmid | 12793891 | |
dc.identifier.doi | 10.1186/bcr582 | |
dc.identifier.uri | http://hdl.handle.net/10541/82274 | |
dc.description.abstract | Germline 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.iso | en | en |
dc.subject | Breast Cancer | en |
dc.subject | Tumour Suppressor Genes | en |
dc.subject.mesh | Base Sequence | |
dc.subject.mesh | Breast Neoplasms | |
dc.subject.mesh | Cytosine | |
dc.subject.mesh | Genes, Tumor Suppressor | |
dc.subject.mesh | Humans | |
dc.subject.mesh | Protein Kinases | |
dc.subject.mesh | Protein-Serine-Threonine Kinases | |
dc.subject.mesh | Risk Factors | |
dc.subject.mesh | Sequence Deletion | |
dc.title | Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk. | en |
dc.type | Article | en |
dc.contributor.department | CR-UK Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK. jvarley@picr.man.ac.uk | en |
dc.identifier.journal | Breast Cancer Research | en |
html.description.abstract | Germline 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. |