Article
A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome.
Genome medicine - 22 Oct 2025
Fortuno Cristina, Frone Megan N, Mester Jessica, de la Hoya Miguel, Mai Phuong L, Pesaran Tina, Achatz Maria Isabel, Bassett Rebecca, Bustamante Carolina, Crowley Stephanie, de Andrade Kelvin Cesar, Evans D Gareth, Feng Bingjian, Fuqua Laura, Harrell Maria Isabel, Hatton Jessica N, Huether Robert, Kesserwan Chimene, Lee Kristy, MacFarland Suzanne P, Maciaszek Jamie L, Maxwell Kara, McGoldrick Kelly, Murphy Maureen, Nehoray Bita, Penkert Judith, Pinto Emilia Modolo, Plon Sharon E, Schwartz-Levine Alison, Thompson Ashley S, Wang Wenyi, Zambetti Gerard P, Zelley Kristin, James Paul A, Savage Sharon A, Kratz Christian P, Spurdle Amanda B
Abstract excerpt
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 significance (VUS). To improve classification accuracy and reduce the proportion of VUS, the ClinGen TP53 Variant Curation...
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