A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome

Abstract Background Germline pathogenic variants in TP53 cause Li-Fraumeni syndrome, with significantly elevated cancer risk from infancy. Accurate classification of TP53 variants is essential to guide clinical management and surveillance, yet many variants remain classified as variants of uncertain...

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Hauptverfasser:	Cristina Fortuno, Megan N. Frone, Jessica Mester, Miguel de la Hoya, Phuong L. Mai, Tina Pesaran, Maria Isabel Achatz, Rebecca Bassett, Carolina Bustamante, Stephanie Crowley, Kelvin Cesar de Andrade, D. Gareth Evans, Bingjian Feng, Laura Fuqua, Maria Isabel Harrell, Jessica N. Hatton, Robert Huether, Chimene Kesserwan, Kristy Lee, Suzanne P. MacFarland, Jamie L. Maciaszek, Kara Maxwell, Kelly McGoldrick, Maureen Murphy, Bita Nehoray, Judith Penkert, Emilia Modolo Pinto, Sharon E. Plon, Alison Schwartz-Levine, Ashley S. Thompson, Wenyi Wang, Gerard P. Zambetti, Kristin Zelley, Paul A. James, Sharon A. Savage, Christian P. Kratz, Amanda B. Spurdle
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	BMC 2025-10-01
Schriftenreihe:	Genome Medicine
Schlagworte:	TP53 Li-Fraumeni syndrome ACMG guidelines ClinGen Variant Curation Expert Panel (VCEP)
Online-Zugang:	https://doi.org/10.1186/s13073-025-01536-3
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