Abstract
Germline pathogenic variants in the TP53 gene are the underlying cause of Li-Fraumeni Syndrome (LFS). Carriers are at risk for a wide tumor spectrum. Lung cancer (LC) represents 3.6% of all LFS tumors and most LC in LFS harbor EGFR mutations. LFS is present in 0.3% in South and Southeastern Brazil due to the founder p.R337H TP53 variant. We aim to evaluate the prevalence and outcomes of p.R337H TP53 carriers with LC.
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