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- Title
The Clinical and Molecular Profile of Lung Cancer Patients Harboring the TP53 R337H Germline Variant in a Brazilian Cancer Center: The Possible Mechanism of Carcinogenesis.
- Authors
Lopes, Carlos D. H.; Antonacio, Fernanda F.; Moraes, Priscila M. G.; Asprino, Paula F.; Galante, Pedro A. F.; Jardim, Denis L.; de Macedo, Mariana P.; Sandoval, Renata L.; Katz, Artur; de Castro Jr., Gilberto; Achatz, Maria Isabel
- Abstract
In southern and southeastern Brazil, the TP53 founder variant c.1010G>A (R337H) has been previously documented with a prevalence of 0.3% within the general population and linked to a heightened incidence of lung adenocarcinomas (LUADs). In the present investigation, we cover clinical and molecular characterizations of lung cancer patients from the Brazilian Li-Fraumeni Syndrome Study (BLISS) database. Among the 175 diagnosed malignant neoplasms, 28 (16%) were classified as LUADs, predominantly occurring in females (68%), aged above 50 years, and never-smokers (78.6%). Significantly, LUADs manifested as the initial clinical presentation of Li-Fraumeni Syndrome in 78.6% of cases. Molecular profiling was available for 20 patients, with 14 (70%) revealing EGFR family alterations. In total, 23 alterations in cancer driver genes were identified, comprising 7 actionable mutations and 4 linked to resistance against systemic treatments. In conclusion, the carriers of TP53 R337H demonstrate a predisposition to LUAD development. Furthermore, our results indicate that environmental pollution potentially impacts the carcinogenesis of lung tumors in the carriers of TP53 R337H.
- Subjects
BRAZIL; LUNG cancer; CANCER patients; LI-Fraumeni syndrome; SYMPTOMS; POLLUTION
- Publication
International Journal of Molecular Sciences, 2023, Vol 24, Issue 20, p15035
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms242015035