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Article

Inherited TP53 Mutations and the Li-Fraumeni Syndrome.

Cold Spring Harbor perspectives in medicine - 3 Apr 2017

Guha Tanya, Malkin David

Abstract excerpt

Li-Fraumeni syndrome (LFS) is a complex hereditary cancer predisposition disorder associated with early-onset cancers in diverse tissues of origin. Germline TP53 mutations are identified in 75% of patients with classic LFS. The lifetime likelihood of a TP53 mutation carrier developing cancer approaches 75% in males and almost 100% in females. Several genetic modifiers have been implicated to account for the...

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Identifiers

PMID: 28270529
DOI: 10.1101/cshperspect.a026187
PMCID: PMC5378014

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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