Li-Fraumeni syndrome 2
Main clinical features
familial cancer syndrome predisposing to a variety of tumors (see LFS1)
putative tumor suppressor gene lying in the TP53 pathway ; protein kinase 2 required for DNA damage and replication checkpoints, binds to and regulate BRCA1
rare mutations observed in LFS patients without TP53 mutations
the cancer phenotype is not always characteristic of LFS, and may indicate variable phenotypic expression in the rare families with CHK2 mutations.