{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:54:04Z","timestamp":1772160844832,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,5,1]],"date-time":"2023-05-01T00:00:00Z","timestamp":1682899200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2024,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>To describe the genetic variants that may be associated with the development of head and neck cancer (HNC) and functionally validating the molecular implications.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Materials and Methods<\/jats:title>\n                    <jats:p>A prospective observational study was carried out on a family of 3 generations in which 3 members had developed HNC. Peripheral blood sample was taken in a routine procedure for exome sequencing in one relative and genotyping in the remaining twelve relatives. For the functional analysis all\u2010trans retinoic acid (atRA) was extracted from saliva and serum and measured using ultra\u2010performance liquid chromatography\u2013tandem mass spectrometry (UPLC\u2010MS\/MS). The presence of HPV\u2010DNA.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      None of the patients smoked or consumed alcohol. The presence of HPV DNA was not detected in any of the biopsied samples. A total amount of 6 members out of 13 (46.15%) carried out the same mutation of CYP26B1 (2p13.2; G&gt;T). The mean plasma concentration of atRA was 3.3109\u2009\u00b1\u20091.4791\u2009pg\/mL for the study family and 4.7370\u2009\u00b1\u20091.5992\u2009pg\/mL for the controls (\n                      <jats:italic>p<\/jats:italic>\n                      \u2009=\u20090.042).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Lower levels of atRA were confirmed in the study family, which may open the way to the possible relationship between the polymorphism CYP26B1 (2p13.2; G&gt;T) and HNC.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/odi.14572","type":"journal-article","created":{"date-parts":[[2023,4,7]],"date-time":"2023-04-07T08:36:20Z","timestamp":1680856580000},"page":"1032-1039","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Genetic linkage analysis of head and neck cancer in a Spanish family"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2196-9868","authenticated-orcid":false,"given":"Mario","family":"P\u00e9rez\u2010Say\u00e1ns","sequence":"first","affiliation":[{"name":"Oral Medicine, Oral Surgery and Implantology Unit, Faculty of Medicine and Dentistry Santiago de Compostela University  Santiago de Compostela Spain"},{"name":"Institute of Health Research Institute of Santiago (IDIS)  Santiago de Compostela Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5637-9908","authenticated-orcid":false,"given":"Cintia M.","family":"Chamorro\u2010Petronacci","sequence":"additional","affiliation":[{"name":"Oral Medicine, Oral Surgery and Implantology Unit, Faculty of Medicine and Dentistry Santiago de Compostela University  Santiago de Compostela Spain"},{"name":"Institute of Health Research Institute of Santiago (IDIS)  Santiago de Compostela 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