Evidence mapPaperPMID 41714959Full record

ArticleMolecular medicine (Cambridge, Mass.)2026

A novel polymorphism in the TERT gene is associated with lower survival in male patients with melanoma.

Maria Santa Rocca, Andrea Di Nisio, Paolo Del Fiore, Fortunato Cassalia, Clara Benna, Ilaria Cosci, Simone Mocellin, Alberto Ferlin

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Article in Molecular medicine (Cambridge, Mass.), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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8 authors.

Maria Santa RoccaUnit of Andrology and Reproductive Medicine, University Hospital of Padua, Via N. Giustiniani 2, Padua, 35129, Italy.ORCID http://orcid.org/0000-0002-4794-9745
Andrea Di NisioDepartment of Psychology and Health Sciences, Pegaso Telematic University, Naples, Italy.ORCID http://orcid.org/0000-0002-7251-9210
Paolo Del FioreSoft-Tissue, Peritoneum and Melanoma Surgical Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.ORCID http://orcid.org/0000-0002-2862-8014
Fortunato CassaliaDepartment of Dermatology, University of Padua, Padua, Italy.ORCID http://orcid.org/0000-0002-5014-1122
Clara BennaDepartment of Surgery, Oncology and Gastroenterology, University of Padua, Padua, Italy.ORCID http://orcid.org/0000-0002-9077-2471
Ilaria CosciDepartment of Medicine, University of Padua, Via N. Giustiniani 2, Padua, 35129, Italy.ORCID http://orcid.org/0009-0000-5998-8146
Simone MocellinSoft-Tissue, Peritoneum and Melanoma Surgical Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.ORCID http://orcid.org/0000-0002-9433-8445
Alberto FerlinUnit of Andrology and Reproductive Medicine, University Hospital of Padua, Via N. Giustiniani 2, Padua, 35129, Italy. alberto.ferlin@unipd.it.ORCID http://orcid.org/0000-0001-5817-8141

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIn recent years, several genes beyond BRAF have been identified as recurrently mutated in melanoma, including hTERT (human telomerase reverse transcriptase). While the most extensively studied TERT mutations occur within its promoter region, intron 4 has also been implicated as a locus associated with cancer susceptibility. This study aimed to investigate the role of the rs7734992 polymorphism, located in a potentially functional site within intron 4 of the TERT gene, in melanoma risk and prognosis, as well as to evaluate possible sex-specific effects.

methodsA total of 1,083 melanoma patients with follow-up data exceeding six months were retrospectively included. Genotyping was performed on DNA extracted from peripheral blood using a TaqMan assay.

resultsMale patients carrying the TT genotype of rs7734992 exhibited significantly poorer survival (OR = 3,145, 95% Cis = 1,465—6,753; p = 0.003) compared with females, although no association was found between this polymorphism and melanoma risk.

conclusionsThese findings suggest that the rs7734992 polymorphism may influence melanoma prognosis in male patients. While this study provides novel insights into melanoma genetics, functional investigations are warranted to clarify the biological mechanisms through which rs7734992 could affect male survival, and to explore whether the TT genotype, in conjunction with sex hormone levels, modulates telomerase activity and, consequently, telomere length.

Indexed as

MelanomaPolymorphism, Single NucleotideTelomeraseAdultAgedFemaleGenetic Association StudiesGenetic Predisposition to DiseaseGenotypeHumansMaleMiddle AgedPrognosisTelomeraseTERT protein, humanMelanomars7734992Sex-dependent cancerSkin cancerTelomeraseTelomeresTERT

Identifiers

PMID41714959
PMCPMC13032460

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