Is CHEK2 a cause of the Li-Fraumeni syndrome? [J Med Genet. 2008]

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1: J Med Genet. 2008 Jan;45(1):63-4. Links

Is CHEK2 a cause of the Li-Fraumeni syndrome?

PMID: 18178638 [PubMed - indexed for MEDLINE]

The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.
Ruijs MW, Broeks A, Menko FH, Ausems MG, Wagner A, Oldenburg R, Meijers-Heijboer H, Van't Veer LJ, Verhoef S. Hered Cancer Clin Pract. 2009 Feb 17; 7(1):4. Epub 2009 Feb 17.

[Hered Cancer Clin Pract. 2009]
CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer.
Chrisanthar R, Knappskog S, Løkkevik E, Anker G, Østenstad B, Lundgren S, Berge EO, Risberg T, Mjaaland I, Maehle L, et al. PLoS One. 2008 Aug 26; 3(8):e3062. Epub 2008 Aug 26.

[PLoS One. 2008]

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