Beyond Li Fraumeni Syndrome: Clinical Characteristics of Families With <i>p53</i> Germline Mutations

Abstract

This is, to our knowledge, the largest single report of diagnostic testing for germline p53 mutations, yielding practical mutation prevalence tables and suggesting clinical utility of classic LFS and Chompret criteria for identifying a subset of cancer-prone families with p53 germline mutations, with important implications for diagnosis and management.