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Breast Cancer Research
Published in: Breast Cancer Research 3/2003

01-06-2003 | Commentary

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

Authors: Jenny Varley, Daniel A Haber

Published in: Breast Cancer Research | Issue 3/2003

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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.
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Metadata
Title
Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk
Authors
Jenny Varley
Daniel A Haber
Publication date
01-06-2003
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 3/2003
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr582

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