Li-Fraumeni syndrome

Abstract

Germ-line p53 point mutations have been reported for various families with Li-Fraumeni syndrome (LFS) characterized by a dominantly inherited increased susceptibility for the development of early age of onset neoplasms of diverse origin in multiple family members. Recently Bell et al reported that mutations in a known checkpoint gene called Chk2 cause some cases of LFS. This review will present the effective interaction of epidemiologic method and molecular genetics on the identification of cancer predisposition and will discuss about various problems of predictive testing for inherited mutations in cancer susceptibility genes.