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:
Cristina Fortuno, Megan N Frone, Jessica Mester, Miguel de la Hoya, Phuong L Mai, Tina Pesaran, MA, MS, CGC, 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
Journal: Genome Medicine