Article
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Cancer research communications - 1 May 2023
Subasri Vallijah, Light Nicholas, Kanwar Nisha, Brzezinski Jack, Luo Ping, Hansford Jordan R, Cairney Elizabeth, Portwine Carol, Elser Christine, Finlay Jonathan L, Nichols Kim E, Alon Noa, Brunga Ledia, Anson Jo, Kohlmann Wendy, de Andrade Kelvin C, Khincha Payal P, Savage Sharon A, Schiffman Joshua D, Weksberg Rosanna, Pugh Trevor J, Villani Anita, Shlien Adam, Goldenberg Anna, Malkin David
Abstract excerpt
Li-Fraumeni syndrome (LFS) is an autosomal dominant cancer-predisposition disorder. Approximately 70% of individuals who fit the clinical definition of LFS harbor a pathogenic germline variant in the TP53 tumor suppressor gene. However, the remaining 30% of patients lack a TP53 variant and even among variant TP53 carriers, approximately 20% remain cancer-free. Understanding the variable cancer penetrance and...
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