Article
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
HGG advances - 11 Jan 2024
de Andrade Kelvin C, Strande Natasha T, Kim Jung, Haley Jeremy S, Hatton Jessica N, Frone Megan N, Khincha Payal P, Thone Gretchen M, Mirshahi Uyenlinh L, Schneider Cynthia, Desai Heena, Dove James T, Smelser Diane T, Levine Arnold J, Maxwell Kara N, Stewart Douglas R, Carey David J, Savage Sharon A
Abstract excerpt
Pathogenic or likely pathogenic (P/LP) germline TP53 variants are the primary cause of Li-Fraumeni syndrome (LFS), a hereditary cancer predisposition disorder characterized by early-onset cancers. The population prevalence of P/LP germline TP53 variants is estimated to be approximately one in every 3,500 to 20,000 individuals. However, these estimates are likely impacted by ascertainment biases and lack of...
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