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Article

Analysis of the Li-Fraumeni Spectrum Based on an International Germline TP53 Variant Data Set: An International Agency for Research on Cancer TP53 Database Analysis.

JAMA oncology - 1 Dec 2021

Kratz Christian P, Freycon Claire, Maxwell Kara N, Nichols Kim E, Schiffman Joshua D, Evans D Gareth, Achatz Maria I, Savage Sharon A, Weitzel Jeffrey N, Garber Judy E, Hainaut Pierre, Malkin David

Abstract excerpt

IMPORTANCE: Li-Fraumeni syndrome is a cancer predisposition syndrome that is associated with a high, lifelong risk of a broad spectrum of cancers that is caused by pathogenic TP53 germline variants. A definition that reflects the broad phenotypic spectrum that has evolved since the gene discovery is lacking, and mechanisms leading to phenotypic differences remain largely unknown. OBJECTIVE: To define the...

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Identifiers

PMID: 34709361
DOI: 10.1001/jamaoncol.2021.4398
PMCID: PMC8554692

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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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