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These cells are deficient in the translesion synthesis (TLS) DNA polymerase eta, responsible for bypassing different types of DNA lesions. From the exome sequencing of 11 skin tumors of a genetic XP-V patients\u2019 cluster, classical mutational signatures related to sunlight exposure, such as C&amp;gt;T transitions targeted to pyrimidine dimers, were identified. However, basal cell carcinomas also showed distinct C&amp;gt;A mutation spectra reflecting a mutational signature possibly related to sunlight-induced oxidative stress. Moreover, four samples carry different mutational signatures, with C&amp;gt;A mutations associated with tobacco chewing or smoking usage. Thus, XP-V patients should be warned of the risk of these habits. Surprisingly, higher levels of retrotransposon somatic insertions were also detected when the tumors were compared with non-XP skin tumors, revealing other possible causes for XP-V tumors and novel functions for the TLS polymerase eta in suppressing retrotransposition. Finally, the expected high mutation burden found in most of these tumors renders these XP patients good candidates for checkpoint blockade immunotherapy.<\/jats:p>","DOI":"10.1093\/carcin\/bgad030","type":"journal-article","created":{"date-parts":[[2023,5,17]],"date-time":"2023-05-17T10:41:02Z","timestamp":1684320062000},"page":"511-524","source":"Crossref","is-referenced-by-count":9,"title":["Mutational signatures and increased retrotransposon insertions in xeroderma pigmentosum variant skin tumors"],"prefix":"10.1093","volume":"44","author":[{"given":"Camila","family":"Corradi","sequence":"first","affiliation":[{"name":"Department of Microbiology, Institute of Biomedical Sciences, University of S\u00e3o Paulo , S\u00e3o Paulo, SP 05508-000 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana B","family":"Vilar","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Institute of Biomedical Sciences, University of S\u00e3o Paulo , S\u00e3o Paulo, SP 05508-000 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vanessa C","family":"Buzatto","sequence":"additional","affiliation":[{"name":"Molecular Oncology Center, Bioinformatics Laboratory, Hospital S\u00edrio-Liban\u00eas , S\u00e3o Paulo, SP 01308-060 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiago A","family":"de Souza","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Institute of Biomedical Sciences, University of S\u00e3o Paulo , S\u00e3o Paulo, SP 05508-000 , Brazil"},{"name":"Tau GC Bioinformatics , Cotia, SP 06711-020 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ligia P","family":"Castro","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Institute of Biomedical Sciences, University of S\u00e3o Paulo , S\u00e3o Paulo, SP 05508-000 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veridiana","family":"Munford","sequence":"additional","affiliation":[{"name":"Department of Microbiology, Institute of Biomedical Sciences, University of S\u00e3o Paulo , S\u00e3o Paulo, SP 05508-000 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo","family":"De Vecchi","sequence":"additional","affiliation":[{"name":"L\u2019Or\u00e9al Research & Innovation , Rio de Janeiro, RJ 21044-020 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4820-4155","authenticated-orcid":false,"given":"Pedro A F","family":"Galante","sequence":"additional","affiliation":[{"name":"Molecular Oncology Center, Bioinformatics Laboratory, Hospital S\u00edrio-Liban\u00eas , S\u00e3o Paulo, SP 01308-060 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernanda","family":"Orpinelli","sequence":"additional","affiliation":[{"name":"Molecular Oncology Center, Bioinformatics Laboratory, Hospital S\u00edrio-Liban\u00eas , S\u00e3o Paulo, SP 01308-060 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thiago L A","family":"Miller","sequence":"additional","affiliation":[{"name":"Molecular Oncology Center, Bioinformatics Laboratory, Hospital S\u00edrio-Liban\u00eas , S\u00e3o Paulo, SP 01308-060 , Brazil"},{"name":"Department of Biochemistry, Institute of Chemistry, University of Sao Paulo , Sao Paulo, SP 05508-000 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 L","family":"Buzzo","sequence":"additional","affiliation":[{"name":"Molecular Oncology Center, Bioinformatics Laboratory, Hospital S\u00edrio-Liban\u00eas , S\u00e3o Paulo, SP 01308-060 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mirian N","family":"Sotto","sequence":"additional","affiliation":[{"name":"Medical School, University of Sao Paulo , Sao Paulo, SP 01246-903 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo","family":"Saldiva","sequence":"additional","affiliation":[{"name":"Medical School, University of Sao Paulo , Sao Paulo, SP 01246-903 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jocel\u00e2nio W","family":"de Oliveira","sequence":"additional","affiliation":[{"name":"Institute of Mathematics and Statistics, University of S\u00e3o Paulo , S\u00e3o Paulo, SP 05508-090 , Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sulamita C W","family":"Chaibub","sequence":"additional","affiliation":[{"name":"Goi\u00e2nia General Hospital , Goi\u00e2nia, GO 74110-010 , 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