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

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 o...

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Detalles Bibliográficos
Autores principales: Varley, Jenny, Haber, Daniel A
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2003
Materias:
Commentary
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC164998/
https://www.ncbi.nlm.nih.gov/pubmed/12793891
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author Varley, Jenny
Haber, Daniel A
author_facet Varley, Jenny
Haber, Daniel A
author_sort Varley, Jenny
collection PubMed
description 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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spelling pubmed-1649982003-07-12 Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk Varley, Jenny Haber, Daniel A Breast Cancer Res Commentary 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. BioMed Central 2003 2003-02-20 /pmc/articles/PMC164998/ /pubmed/12793891 Text en Copyright © 2003 BioMed Central Ltd
spellingShingle Commentary
Varley, Jenny
Haber, Daniel A
Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk
title Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk
title_full Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk
title_fullStr Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk
title_full_unstemmed Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk
title_short Familial breast cancer and the hCHK2 1100delC mutation: assessing cancer risk
title_sort familial breast cancer and the hchk2 1100delc mutation: assessing cancer risk
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC164998/
https://www.ncbi.nlm.nih.gov/pubmed/12793891
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AT haberdaniela familialbreastcancerandthehchk21100delcmutationassessingcancerrisk

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