Clinical management of TP53 mosaic variants found on germline genetic testing

Diagnosis of Li-Fraumeni syndrome (LFS) is based on personal and/or family cancer history[1 –4] of core cancers including: breast cancer (BC), soft tissue/bone sarcoma, brain tumors, and adrenal cortical carcinoma[5]. In Classic LFS, patients have cancer at early ages (50% cancer risk by age 30) and high risk for multiple cancers over the lifespan[6]. Recently, a spectrum of LFS has been proposed incorporating broader clinical phenotypes[7].

Source: Cancer Genetics and Cytogenetics - April 23, 2024 Category: Genetics & Stem Cells Authors: Abigail Ward, Dana Farengo-Clark, Danielle B. McKenna, Anton Safonov, Madeline Good, Anh Le, Lisa Kessler, Payal D. Shah, Angela R. Bradbury, Susan M. Domchek, Katherine L. Nathanson, Jacquelyn Powers, Kara N. Maxwell Source Type: research