Low-penetrance TP53 variants are mainly hypomorphic: an underestimated issue with high clinical significance

Abstract Missense mutations that inactivate p53 are common in cancer. LiFraumeni syndrome, which is linked to early-onset cancer, is caused by germline mutations in TP53. Full-penetrant, inactive variants have garnered great attention, whereas low-penetrant variants are less well understood despite...

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Bibliographic Details

Published in:	npj Genomic Medicine
Main Authors:	Lea Rodriguez, Bernard Leroy, Franck Toledo, Julianne Susanne Funk, Thorsten Stiewe, Panagiotis Baliakas, François Delhommeau, Thierry Soussi
Format:	Article
Language:	English
Published:	Nature Portfolio 2026-04-01
Online Access:	https://doi.org/10.1038/s41525-026-00568-x