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Article

Higher-than-expected population prevalence of potentially pathogenic germline TP53 variants in individuals unselected for cancer history.

Human mutation - 1 Dec 2017

de Andrade Kelvin César, Mirabello Lisa, Stewart Douglas R, Karlins Eric, Koster Roelof, Wang Mingyi, Gapstur Susan M, Gaudet Mia M, Freedman Neal D, Landi Maria Teresa, Lemonnier Nathanaël, Hainaut Pierre, Savage Sharon A, Achatz Maria Isabel

Abstract excerpt

Li-Fraumeni syndrome (LFS) is an autosomal-dominant cancer predisposition disorder associated with pathogenic germline variants in TP53, with a high penetrance over an individual's lifetime. The actual population prevalence of pathogenic germline TP53 mutations is still unclear, most likely due to biased selection of cancer affected families. The aim of this study was to estimate the population prevalence of...

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Identifiers

PMID: 28861920
DOI: 10.1002/humu.23320
PMCID: PMC6858060

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