A quantitative, Bayesian-informed approach to gene-specific variant classification: Updated Expert Panel recommendations improve classification of TP53 germline variants for Li-Fraumeni syndrome
Authors: 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
Collaborators: Baylor University Medical Center; Children's Hospital of Philadelphia; City of Hope; Dana Farber Cancer Institute; Hannover Medical School; Hospital Sirio-Libanes; Instituto de Investigación Sanitaria del Hospital Clínico San Carlos; Invitae Corporation; National Institutes of Health; NYU Grossman School of Medicine; Peter MacCallum Cancer Centre and Royal Melbourne Hospital; QIMR Berghofer Medical Research Institute; St. Jude Medical Center, Memphis, Tennessee; Tempus Labs; The University of Texas MD Anderson Cancer Center; University of Manchester; University of North Carolina at Chapel Hill; University of Pittsburgh; University of Utah; Vanderbilt University; Wistar Institute; Women's Health and Genetics, Labcorp