04 | Association of a novel TERT polymorphism with poorer survival in male patients with melanoma
Fortunato Cassalia1, Maria Santa Rocca2, Andrea Di Nisio3, Paolo del Fiore*4, Clara Benna5|7, Ilaria Cosci6, Simone Mocellin4|5, Alberto Ferlin*2|6 | 1Department of Dermatology, University of Padua, Padua; 2Unit of Andrology and Reproductive Medicine, University Hospital of Padua, Padua; 3Department of Wellbeing, Nutrition and Sport, Pegaso Telematic University, Naples; 4Soft-Tissue, Peritoneum and Melanoma Surgical Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua; 5Department of Surgery, Oncology and Gastroenterology, University of Padua, Padua; 6Department of Medicine, University of Padua, Padua; 7Unit of Biostatistics, Epidemiology and Public Health, Department of Cardio-Thoraco-Vascular Sciences and Public Health, University of Padua, Padua, Italy.
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Background: In recent years, several genes beyond BRAF have been identified as recurrently mutated in melanoma, including TERT (telomerase reverse transcriptase). While the most extensively studied TERT alterations occur in its promoter region, intron 4 has also been implicated as a locus associated with cancer susceptibility. This study investigated the role of the rs7734992 polymorphism, located in a potentially functional site within intron 4 of the TERT gene, in melanoma risk and prognosis, with particular attention to sex-specific effects.
Methods: A total of 1,083 melanoma patients with follow-up longer than six months were retrospectively included. Genotyping was performed on DNA extracted from peripheral blood using a TaqMan assay.
Results: Male patients carrying the TT genotype of rs7734992 showed significantly poorer survival (OR = 3.145, 95% CI = 1.465–6.753; p = 0.003) compared with females. No association was observed between this polymorphism and melanoma risk.
Conclusions: The rs7734992 polymorphism may influence prognosis in male patients with melanoma. These findings provide novel insights into melanoma genetics, although functional studies are needed to elucidate the biological mechanisms through which rs7734992 may affect male survival and to explore whether the TT genotype, in combination with sex hormone levels, modulates telomerase activity and telomere length.
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