Ontology highlight
ABSTRACT:
SUBMITTER: Guha T
PROVIDER: S-EPMC5378014 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Cold Spring Harbor perspectives in medicine 20170403 4
Li-Fraumeni syndrome (LFS) is a complex hereditary cancer predisposition disorder associated with early-onset cancers in diverse tissues of origin. Germline <i>TP53</i> mutations are identified in 75% of patients with classic LFS. The lifetime likelihood of a <i>TP53</i> mutation carrier developing cancer approaches 75% in males and almost 100% in females. Several genetic modifiers have been implicated to account for the phenotypic variability within and across LFS families; however, efforts to ...[more]