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Article

Germline TP53 mutations and the changing landscape of Li-Fraumeni syndrome.

Human mutation - 1 Jun 2014

Kamihara Junne, Rana Huma Q, Garber Judy E

Abstract excerpt

Since its description by Li and Fraumeni over 40 years ago, Li-Fraumeni syndrome (LFS) remains one of the most striking familial cancer predisposition syndromes. Children and adults are affected by a wide array of cancers that occur predominantly at younger ages. This review discusses LFS, describes its association with TP53, and examines the classic and evolving definitions of the syndrome. The potential...

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Source

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Identifiers

PMID: 24706533
DOI: 10.1002/humu.22559
PMCID: PMC13577162

Genes

TP53

Provenance

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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