This case underscores the diagnostic and management complexities introduced by germline TP53 VUS, particularly in patients meeting Li-Fraumeni-like syndrome (LFL) criteria. The p.Arg248Gln variant lies in a mutational hotspot and may impair DNA…
Hypopharyngeal squamous cell carcinoma in a patient with germline TP53 c.743G > A (p.Arg248Gln) variant: a case report | Journal of Medical Case Reports
