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...

Descripción completa

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
Descripción
Sumario: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.

Ejemplares similares