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Although XP is a monogenic disorder, differences in clinical severity may occur even between monozygotic twins. Here, we present monozygotic twins (M3 and M6) with the XP variant (XP\u2010V) displaying differences in clinical severity despite sharing similar environments and habits. Using whole genome sequencing (WGS), we evaluated their mutational burden and the impact of therapeutic strategies. Our results confirmed their kinship and the expected presence of the same\n                    <jats:italic>POLH<\/jats:italic>\n                    mutation in both patients. The somatic mutation profiles showed that Patient M3 harbored a significantly higher number of somatic mutations (\n                    <jats:italic>p<\/jats:italic>\n                    \u2264 0.0001), including the exclusive detection of the ID8 signature. Despite these differences, the mutational spectrum remained remarkably consistent between twins (cosine\u2009similarity &gt; 0.98). In addition, as one of the patients was submitted to cisplatin (CDDP) therapy, we confirmed in vitro the impact of CDDP on the cell cycle of TLS\u2010deficient cells. Therefore, the analyses of the genome sequences of these twin XP\u2010V patients revealed that during their lifetime endogenous DNA damage and therapeutic treatments may lead to high levels of mutations and phenotype divergency in their genome.\n                  <\/jats:p>","DOI":"10.1155\/humu\/7247751","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T11:28:47Z","timestamp":1791372527000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Xeroderma Pigmentosum Monozygotic Twins: Same Mutation Divergent Clinical Outcomes"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8279-7329","authenticated-orcid":false,"given":"Jos\u00e9 Pereira dos","family":"Santos J\u00fanior","sequence":"first","affiliation":[{"name":"Laboratory of Genetic and Human Molecular Biology Department of Genetic Federal University of Pernambuco  Recife Pernambuco Brazil  ufpe.br"},{"name":"Keizo Asami Institute Federal University of Pernambuco  Recife Pernambuco Brazil  ufpe.br"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3319-5775","authenticated-orcid":false,"given":"Maria Carolina Fernandes Cabral dos","family":"Santos","sequence":"additional","affiliation":[{"name":"DNA Repair Laboratory Institute of Biomedical Sciences Department of Microbiology University of S\u00e3o Paulo  S\u00e3o Paulo Brazil  usp.br"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4837-9016","authenticated-orcid":false,"given":"Lidiane Gomes","family":"da Silva","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic and Human Molecular Biology Department of Genetic Federal University of Pernambuco  Recife Pernambuco Brazil  ufpe.br"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6917-5306","authenticated-orcid":false,"given":"Wilson Jos\u00e9","family":"da Silva J\u00fanior","sequence":"additional","affiliation":[{"name":"Laboratory of Bioinformatics and Evolutionary Biology Department of Genetic Federal University of Pernambuco  Recife Pernambuco Brazil  ufpe.br"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2587-7576","authenticated-orcid":false,"given":"Camila","family":"Corradi","sequence":"additional","affiliation":[{"name":"DNA Repair Laboratory Institute of Biomedical Sciences Department of Microbiology University of S\u00e3o Paulo  S\u00e3o Paulo Brazil  usp.br"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0329-4780","authenticated-orcid":false,"given":"Veridiana","family":"Munford","sequence":"additional","affiliation":[{"name":"DNA Repair Laboratory Institute of Biomedical Sciences Department of Microbiology University of S\u00e3o Paulo  S\u00e3o Paulo Brazil  usp.br"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4319-3952","authenticated-orcid":false,"given":"Valdir","family":"de Queiroz Balbino","sequence":"additional","affiliation":[{"name":"Laboratory of Bioinformatics and Evolutionary Biology Department of Genetic Federal University of Pernambuco  Recife Pernambuco Brazil  ufpe.br"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0446-848X","authenticated-orcid":false,"given":"T\u00falio","family":"de Lima Campos","sequence":"additional","affiliation":[{"name":"Bioinformatics Core Facility Aggeu Magalh\u00e3es Institute Oswaldo Cruz Foundation  Recife Pernambuco Brazil  fiocruz.br"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1941-0694","authenticated-orcid":false,"given":"Carlos Frederico Martins","family":"Menck","sequence":"additional","affiliation":[{"name":"DNA Repair Laboratory Institute of Biomedical Sciences Department of Microbiology University of S\u00e3o Paulo  S\u00e3o Paulo Brazil  usp.br"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1660-7299","authenticated-orcid":false,"given":"Jaqueline","family":"de Azev\u00eado Silva","sequence":"additional","affiliation":[{"name":"Laboratory of Genetic and Human Molecular Biology Department of Genetic Federal University of Pernambuco  Recife Pernambuco Brazil  ufpe.br"},{"name":"Keizo Asami Institute Federal University of Pernambuco  Recife Pernambuco Brazil  ufpe.br"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,7]]},"reference":[{"key":"e_1_2_13_1_2","doi-asserted-by":"publisher","DOI":"10.1590\/S1415-47572014000200008"},{"key":"e_1_2_13_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2011.426"},{"key":"e_1_2_13_3_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1519444113"},{"key":"e_1_2_13_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/php.12345"},{"key":"e_1_2_13_5_2","volume-title":"Xeroderma Pigmentosum: When the Sun Is the Enemy","author":"Sarasin 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