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Li-Fraumeni syndrome

Thursday 11 November 2004

Autosomal dominant transmission.

Synopsis

- Predispsotion to tumors (unusually early age of tumor onset
frequent multiple primary tumors)

- Impaired lymphocyte transformation with phytohemagglutinin
- Polyclonal IgM elevation

Etiology (3 known loci)

- Locus 9p21
- Locus TP53 at 17p13.1: germline mutations in the TP53 gene coding for protein p53
- Locus CHEK2 at 22q12.1: germline mutations in the CHEK2 gene (MIM.604373). CHEK2 is a protein kinase activated in response to DNA damage, is involved in cell cycle arrest.