{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T23:11:37Z","timestamp":1792192297404,"version":"4.4.0"},"reference-count":37,"publisher":"Open Exploration Publishing","license":[{"start":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T00:00:00Z","timestamp":1749168000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Explor Target Antitumor Ther"],"accepted":{"date-parts":[[2025,5,19]]},"abstract":"<jats:p xml:lang=\"en\">Aim: Penile cancer (PeCa) is a rare malignancy strongly associated with poor genital hygiene and is more prevalent in regions with low socioeconomic status. PeCa accounts for approximately 2% to 4% of all male cancers in Brazil, with higher incidence in the North and Northeast regions. Despite its aggressive nature, the molecular mechanisms underlying PeCa remain poorly understood. We performed whole-exome sequencing in a Brazilian cohort of patients with PeCa to identify potentially pathogenic genetic alterations associated with tumor development and progression. Methods: Tumor tissue samples were obtained from patients diagnosed with PeCa. DNA was extracted and subjected to whole-exome sequencing. Human papillomavirus (HPV) genotyping was performed for subtypes 16 and 18. Control samples were collected from individuals without PeCa or other genital diseases. Results: The cohort demonstrated considerable genetic heterogeneity. Multiple gene mutations were identified in tumor samples, many of which are involved in carcinogenesis-related biological pathways. Distinct molecular profiles were observed, suggesting diverse tumorigenic mechanisms. MUC16 (present in 11\/12 patients, 91.7%) and PABPC1 (8\/12 patients, 66.7%) were the most frequently mutated genes. HPV-16 was detected in a subset of cases; however, no consistent association with more aggressive disease was identified. Conclusions: This study provides new insights into the genomic landscape of PeCa in a Brazilian population. The findings highlight the presence of heterogeneous and potentially pathogenic mutations, reinforcing the need for further molecular characterization and exploration of novel therapeutic targets in PeCa.<\/jats:p>","DOI":"10.37349\/etat.2025.1002323","type":"journal-article","created":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T05:05:19Z","timestamp":1749186319000},"update-policy":"https:\/\/doi.org\/10.37349\/open_exploration_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Mutational landscape of epidermoid carcinoma of the penis in a Brazilian cohort"],"prefix":"10.37349","volume":"6","author":[{"given":"Renato Mendes Rossi","family":"De Lucca","sequence":"first","affiliation":[{"name":"Medicine School of Ribeir\u00e3o Preto, University of S\u00e3o Paulo, Ribeir\u00e3o Preto 14040-900, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle Barbosa","family":"Brotto","sequence":"additional","affiliation":[{"name":"Medicine School of Ribeir\u00e3o Preto, University of S\u00e3o Paulo, Ribeir\u00e3o Preto 14040-900, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia Tarcila Gomes","family":"Sares","sequence":"additional","affiliation":[{"name":"Medicine School of Ribeir\u00e3o Preto, University of S\u00e3o Paulo, Ribeir\u00e3o Preto 14040-900, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly Gomes","family":"Duarte","sequence":"additional","affiliation":[{"name":"Medicine School of Ribeir\u00e3o Preto, University of S\u00e3o Paulo, Ribeir\u00e3o Preto 14040-900, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wilson Araujo","family":"Silva Junior","sequence":"additional","affiliation":[{"name":"Medicine School of Ribeir\u00e3o Preto, University of S\u00e3o Paulo, Ribeir\u00e3o Preto 14040-900, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe E.","family":"Spiess","sequence":"additional","affiliation":[{"name":"Morsani College of Medicine, Moffitt Cancer Center, University of South Florida, Tampa, FL 33612, USA; INCT UroGen, National Institute of Science, Technology and Innovation in Genitourinary Cancer (INCT), Campinas 13087-571, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shahrokh F.","family":"Shariat","sequence":"additional","affiliation":[{"name":"INCT UroGen, National Institute of Science, Technology and Innovation in Genitourinary Cancer (INCT), Campinas 13087-571, Brazil; Medical University Vienna, University Hospital Vienna AKH, 1090 Vienna, Austria; Hourani Center for Applied Scientific Research, Al-Ahliyya Amman University, Amman 19328, Jordan; Department of Urology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Urology, Weill Cornell Medical College, New York, NY 10065, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nat\u00e1lia Dalsenter","family":"Avilez","sequence":"additional","affiliation":[{"name":"INCT UroGen, National Institute of Science, Technology and Innovation in Genitourinary Cancer (INCT), Campinas 13087-571, Brazil; UroScience, School of Medical Sciences, University of Campinas (Unicamp), Campinas 13083-970, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caio de","family":"Oliveira","sequence":"additional","affiliation":[{"name":"INCT UroGen, National Institute of Science, Technology and Innovation in Genitourinary Cancer (INCT), Campinas 13087-571, Brazil; UroScience, School of Medical Sciences, University of Campinas (Unicamp), Campinas 13083-970, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2092-414X","authenticated-orcid":false,"given":"Leonardo O.","family":"Reis","sequence":"additional","affiliation":[{"name":"INCT UroGen, National Institute of Science, Technology and Innovation in Genitourinary Cancer (INCT), Campinas 13087-571, Brazil; UroScience, School of Medical Sciences, University of Campinas (Unicamp), Campinas 13083-970, Brazil; ImmunOncology, Pontifical Catholic University of Campinas, Campinas 13060-904, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodolfo Borges dos","family":"Reis","sequence":"additional","affiliation":[{"name":"Medicine School of Ribeir\u00e3o Preto, University of S\u00e3o Paulo, Ribeir\u00e3o Preto 14040-900, Brazil; INCT UroGen, National Institute of Science, Technology and Innovation in Genitourinary Cancer (INCT), Campinas 13087-571, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"21850","published-online":{"date-parts":[[2025,6,6]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"861","DOI":"10.1007\/s00345-011-0802-0","article-title":"Epidemiologic profile, sexual history, pathologic features, and human papillomavirus status of 103 patients with penile carcinoma","volume":"31","author":"Chaux","year":"2013","journal-title":"World J Urol"},{"key":"ref2","unstructured":"International Agency for Research on Cancer (IARC). 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Therapy"],"original-title":[],"language":"en","deposited":{"date-parts":[[2025,6,6]],"date-time":"2025-06-06T05:05:20Z","timestamp":1749186320000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.explorationpub.com\/Journals\/etat\/Article\/1002323"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,6]]},"references-count":37,"URL":"https:\/\/doi.org\/10.37349\/etat.2025.1002323","archive":["Portico","Portico"],"relation":{},"ISSN":["2692-3114"],"issn-type":[{"value":"2692-3114","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,6]]},"assertion":[{"value":"2024-12-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-06","order":2,"name":"published","label":"Published 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