[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"doc-seo-381865-105":3,"doc-detail-381865-en":81,"detail-sidebar-cat-0-en-105":99},{"code":4,"msg":5,"data":6},0,"ok",{"site_id":7,"language":8,"slug":9,"title":10,"keywords":11,"description":12,"schema_data":13,"social_meta":74,"head_meta":76,"extra_data":78,"updated_unix":80},105,"en","base-excision-repair-mutational-signature-in-two-sebaceous-carcinomas-of-the-eyelid-research-findings","Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid - Research Findings","","Personalized medicine focuses on tailoring cancer treatment to specific mutations found in a patient’s affected tissue, yet rare cancers often lack comprehensive molecular datasets, large clinical trials, and established guidelines. This study characterizes the mutational landscape of two surgically excised eyelid sebaceous carcinomas using bioinformatics analyses. Results identify a Base-Excision Repair mutational signature, elevated tumor mutational burden, and relevant driver somatic mutations, supporting the feasibility of case-level molecular characterization and informing potential targeted options.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/base-excision-repair-mutational-signature-in-two-sebaceous-carcinomas-of-the-eyelid-research-findings/381865/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/base-excision-repair-mutational-signature-in-two-sebaceous-carcinomas-of-the-eyelid-research-findings/381865.png","ImageObject",300,407,{"name":42,"@type":43},"Aldword","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-29","2026-09-24",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",10,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"Why is personalized medicine challenging for rare cancers?","Question",{"text":63,"@type":64},"Rare cancers often have limited molecular and pathological datasets, fewer large-scale trials for new therapies, and less established treatment guidelines.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"What was the main goal of this project?",{"text":68,"@type":64},"To characterize the mutational landscape of two sebaceous carcinomas of the eyelid after surgical excision.",{"name":70,"@type":61,"acceptedAnswer":71},"Which key mutational features were identified in the two tumors?",{"text":72,"@type":64},"A Base-Excision Repair mutational signature, a notably high tumor mutational burden, and key driver mutations in somatic tissues were found in both cases.","https://schema.org",{"og:url":32,"og:type":75,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":77,"canonical":32},"index,follow",{"doc_id":79,"site_id":7},381865,1790662404,{"code":4,"msg":82,"data":83},"success",{"doc_id":79,"user_id":84,"nickname":42,"user_avatar":85,"doc_module":4,"category_id":86,"category_name":29,"doc_title":10,"doc_description":12,"doc_content":87,"file_id":88,"file_url":89,"file_type":90,"file_size":91,"view_count":55,"is_deleted":4,"is_public":22,"is_downloadable":22,"audit_status":22,"page_count":92,"language":93,"language_code":8,"site_id":7,"html_lang":8,"table_of_contents":94,"faqs":95,"seo_title":96,"seo_description":12,"update_tm":97,"read_time":98},2336478940917,"https://ap-avatar.wpscdn.com/davatar_6f874abed73319feea01a86fa6f0fab8",7,"Article  \nBase-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid  \nEugenio Sangiorgi 1, *,†, Federico Giannuzzi 2,†, Clelia Molinario 3, Giulia Rapari 1, Melania Riccio 1, Giovanni Cuffaro 2, Federica Castri 3, Roberta Benvenuto 3, Maurizio Genuardi 1,4, Daniela Massi 5 and Gustavo Savino 2  \nCitation: Sangiorgi, E.; Giannuzzi, F.; Molinario, C.; Rapari, G.; Riccio, M.; Cuffaro, G.; Castri, F.; Benvenuto, R.; Genuardi, M.; Massi, D.; et al.  \nBase-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid. Genes 2023, 14, 2055. [https://doi.org/10.3390/](https://doi.org/10.3390/)[ ](https://doi.org/10.3390/)genes14112055  \nAcademic Editors: Gokce A. Torunerand Stefano Lonardi  \nReceived: 9 October 2023  \nRevised: 3 November 2023  \nAccepted: 7 November 2023  \nPublished: 8 November 2023  \nCopyright: © 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) .  \n1 Sezione di Medicina Genomica, Dipartimento di Scienze della Vita e Sanit Pubblica, Universit Cattolica del Sacro Cuore, 00168 Roma, Italy; [giuliarapari95@gmail.com](giuliarapari95@gmail.com) (G.R.); [melania.riccio01@icatt.it](melania.riccio01@icatt.it) (M.R.); [maurizio.genuardi@unicatt.it](maurizio.genuardi@unicatt.it) (M.G.)  \n2 Ocular Oncology Unit, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Universit Cattolica del Sacro Cuore, 00168 Roma, Italy; [federico.giannuzzi@gmail.com](federico.giannuzzi@gmail.com) (F.G.); [giovanni.cuf@gmail.com](giovanni.cuf@gmail.com) (G.C.); [gustavo.savino@unicatt.it](gustavo.savino@unicatt.it) (G.S.)  \n3 Division of Anatomic Pathology and Histology, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Universit Cattolica del Sacro Cuore, 00168 Roma, Italy; [clelia.mol@hotmail.it](clelia.mol@hotmail.it) (C.M.); [federica.castri@policlinicogemelli.it](federica.castri@policlinicogemelli.it) (F.C.); [roberta.benvenuto@policlinicogemelli.it](roberta.benvenuto@policlinicogemelli.it) (R.B.)  \n4 UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, 00168 Roma, Italy  \n5 Section of Pathology, Department of Health Sciences, University of Florence, 50121 Florence, Italy;  \ndaniela.massi@unifi.it  \n* Correspondence: [eugenio.sangiorgi@unicatt.it](eugenio.sangiorgi@unicatt.it)[ ](eugenio.sangiorgi@unicatt.it)† These authors contributed equally to this work.  \nAbstract: Personalized medicine aims to develop tailored treatments for individual patients based on specific mutations present in the affected organ. This approach has proven paramount in cancer treatment, as each tumor carries distinct driver mutations that respond to targeted drugs and, in some cases, may confer resistance to other therapies. Particularly for rare conditions, personalized medicine has the potential to revolutionize treatment strategies. Rare cancers often lack extensive datasets of molecular and pathological information, large-scale trials for novel therapies, and established treatment guidelines. Consequently, surgery is frequently the only viable option for many rare tumors, when feasible, as traditional multimodal approaches employed for more common cancers often playa limited role. Sebaceous carcinoma of the eyelid is an exceptionally rare cancer affecting the eye's adnexal tissues, most frequently reported in Asia, but whose prevalence is significantly increasing even in Europe and the US. The sole established curative treatment is surgical excision, which can lead to significant disfigurement. In cases of metastatic sebaceous carcinoma, validated drug options are currently lacking. In this project, we set out to characterize the mutational landscape of two sebaceous carcinomas of the eyelid following surgica","cbCaijrAgD9RuCoa","https://ap.wps.com/l/cbCaijrAgD9RuCoa","pdf",746731,16,"English","# Abstract\n# Keywords\n# Introduction","[{\"question\":\"Why is personalized medicine challenging for rare cancers?\",\"answer\":\"Rare cancers often have limited molecular and pathological datasets, fewer large-scale trials for new therapies, and less established treatment guidelines.\"},{\"question\":\"What was the main goal of this project?\",\"answer\":\"To characterize the mutational landscape of two sebaceous carcinomas of the eyelid after surgical excision.\"},{\"question\":\"Which key mutational features were identified in the two tumors?\",\"answer\":\"A Base-Excision Repair mutational signature, a notably high tumor mutational burden, and key driver mutations in somatic tissues were found in both cases.\"}]","Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid - Research Findings | PDF",1790247512,40,{"code":4,"msg":82,"data":100},[101,105,109,113,118,123,125,130,135,138,141],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":102,"show_sort_weight":103,"slug":104},"Story & Novel",90,"story-novel",{"id":26,"doc_module":4,"doc_module_name":25,"category_name":106,"show_sort_weight":107,"slug":108},"Literature",80,"literature",{"id":33,"doc_module":4,"doc_module_name":25,"category_name":110,"show_sort_weight":111,"slug":112},"Exam",70,"exam",{"id":114,"doc_module":4,"doc_module_name":25,"category_name":115,"show_sort_weight":116,"slug":117},5,"Comic",60,"comic",{"id":119,"doc_module":4,"doc_module_name":25,"category_name":120,"show_sort_weight":121,"slug":122},6,"Technology",50,"technology",{"id":86,"doc_module":4,"doc_module_name":25,"category_name":29,"show_sort_weight":98,"slug":124},"healthcare",{"id":126,"doc_module":4,"doc_module_name":25,"category_name":127,"show_sort_weight":128,"slug":129},8,"Research & Report",30,"research-report",{"id":131,"doc_module":4,"doc_module_name":25,"category_name":132,"show_sort_weight":133,"slug":134},9,"Religion & Spirituality",20,"religion-spirituality",{"id":133,"doc_module":4,"doc_module_name":25,"category_name":136,"show_sort_weight":133,"slug":137},"World Cup","world-cup",{"id":55,"doc_module":4,"doc_module_name":25,"category_name":139,"show_sort_weight":55,"slug":140},"Lifestyle","lifestyle",{"id":142,"doc_module":4,"doc_module_name":25,"category_name":143,"show_sort_weight":114,"slug":144},19,"General","general"]