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The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype

BACKGROUND: CHEK2 has previously been excluded as a major cause of Li-Fraumeni syndrome (LFS). One particular CHEK2 germline mutation, c.1100delC, has been shown to be associated with elevated breast cancer risk. The prevalence of CHEK2*1100delC differs between populations and has been found to be r...

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Detalles Bibliográficos
Autores principales: Ruijs, Marielle WG, Broeks, Annegien, Menko, Fred H, Ausems, Margreet GEM, Wagner, Anja, Oldenburg, Rogier, Meijers-Heijboer, Hanne, van't Veer, Laura J, Verhoef, Senno
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664322/
https://www.ncbi.nlm.nih.gov/pubmed/19338683
http://dx.doi.org/10.1186/1897-4287-7-4