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

Specialty Areas:
Date: November 12, 2025
Authors:
Alison Schwartz-Levine, Amanda B. Spurdle, Ashley S Thompson, Bingjian Feng, Bita Nehoray, Carolina Bustamante, Chimene Kesserwan, Christian P Kratz, Cristina Fortuno, D. Gareth Evans, Emilia Modolo Pinto, Gerard P Zambetti, Jamie L Maciaszek, Jessica Mester, Jessica N Hatton, Judith Penkert, Kara Maxwell, Kelly McGoldrick, Kelvin Cesar de Andrade, Kristin Zelley, Kristy Lee, Laura Fuqua, Maria Isabel Achatz, Maria Isabel Harrell, Maureen Murphy, Megan N Frone, Miguel de la Hoya, Paul A. James, Phuong L Mai, Rebecca Bassett, Robert Huether, Sharon A Savage, Sharon E. Plon, Stephanie Crowley, Suzanne P MacFarland, Tina Pesaran, MA, MS, CGC, Wenyi Wang
Journal: Genome Medicine