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GENATLAS PHENOTYPE
last update : 18/07/2006
Symbol LFS2
Location 22q12.1
Name Li-Fraumeni syndrome 2
Other name(s) Li-Fraumeni variant
Corresponding gene CHEK2
Main clinical features familial cancer syndrome predisposing to a variety of tumors (see LFS1)
Genetic determination autosomal dominant
Related entries LFS1
Function/system disorder neoplasia
multisystem/generalized
Type disease
Gene product
Name putative tumor suppressor gene lying in the TP53 pathway ; protein kinase 2 required for DNA damage and replication checkpoints, binds to and regulate BRCA1
Remark(s) rare mutations observed in LFS patients without TP53 mutations
Genotype/Phenotype correlations the cancer phenotype is not always characteristic of LFS, and may indicate variable phenotypic expression in the rare families with CHK2 mutations.