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

2.50
Hdl Handle:
http://hdl.handle.net/10541/82274
Title:
Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk.
Authors:
Varley, Jennifer; Haber, Daniel A
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.
Affiliation:
CR-UK Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK. jvarley@picr.man.ac.uk
Citation:
Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk. 2003, 5 (3):123-5 Breast Cancer Res.
Journal:
Breast Cancer Research
Issue Date:
2003
URI:
http://hdl.handle.net/10541/82274
DOI:
10.1186/bcr582
PubMed ID:
12793891
Type:
Article
Language:
en
ISSN:
1465-542X
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
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.en
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

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