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This disease is characterized by mutations in the genes related to the DNA repair system.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To describe the clinical and molecular findings in a cohort of 32 Brazilian individuals who received a clinical diagnosis of XP.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Twenty\u2010seven families were screened for germline variants in eight XP\u2010related genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      All patients (\n                      <jats:italic>N<\/jats:italic>\n                      \u00a0=\u00a032) were diagnosed with bi\u2010allelic germline pathogenic or potentially pathogenic variants, including nine variants previously undescribed. The c.2251\u20101G&gt;C\n                      <jats:italic>XPC<\/jats:italic>\n                      pathogenic variant, reported as the founder mutation in Comorian and Pakistani patients, was observed in 15 cases in homozygous or compound heterozygous. Seven homozygous patients for\n                      <jats:italic>POLH\/XPV<\/jats:italic>\n                      variants developed their symptoms by an average age of 7.7\u00a0years.\n                      <jats:italic>ERCC2<\/jats:italic>\n                      \/\n                      <jats:italic>XPD<\/jats:italic>\n                      ,\n                      <jats:italic>DDB2<\/jats:italic>\n                      \/\n                      <jats:italic>XPE<\/jats:italic>\n                      and\n                      <jats:italic>ERCC5<\/jats:italic>\n                      \/\n                      <jats:italic>XPG<\/jats:italic>\n                      variants were found in a few patients. Aside from melanoma and non\u2010melanoma skin tumours, a set of patients developed skin sebaceous carcinoma, leiomyosarcoma, angiosarcoma, mucoepidermoid carcinoma, gastric adenocarcinoma and serous ovarian carcinoma.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      We reported a high frequency of\n                      <jats:italic>XPC<\/jats:italic>\n                      variants in 32 XP Brazilian patients. Nine new variants in XP\u2010related genes, unexpected non\u2010skin cancer lesions and an anticipation of the clinical manifestation in\n                      <jats:italic>POLH\/XPV<\/jats:italic>\n                      cases were also described.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jdv.16405","type":"journal-article","created":{"date-parts":[[2020,4,2]],"date-time":"2020-04-02T02:26:10Z","timestamp":1585794370000},"page":"2392-2401","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients"],"prefix":"10.1111","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6326-7795","authenticated-orcid":false,"given":"K.M.","family":"Santiago","sequence":"first","affiliation":[{"name":"Department of Oncogenetics A.C.Camargo Cancer Center S\u00e3o Paulo 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