{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T05:11:26Z","timestamp":1781845886785,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,1,11]],"date-time":"2018-01-11T00:00:00Z","timestamp":1515628800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["Proc. 88881.118879\/2016\u201001"],"award-info":[{"award-number":["Proc. 88881.118879\/2016\u201001"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","award":["Proc. 88881.119257\/2016\u201001"],"award-info":[{"award-number":["Proc. 88881.119257\/2016\u201001"]}],"id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004901","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de Minas Gerais","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004901","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Mutations in the patched 1 (<jats:italic><jats:styled-content style=\"fixed-case\">PTCH<\/jats:styled-content>1<\/jats:italic>) gene are the main genetic alteration reported in sporadic and nevoid basal cell carcinoma\u2010associated odontogenic keratocyst (<jats:styled-content style=\"fixed-case\">OKC<\/jats:styled-content>). Oncogenic mutations, including <jats:styled-content style=\"fixed-case\">BRAFV<\/jats:styled-content>600E, previously considered exclusive of malignant neoplasms have been reported in odontogenic tumors. Recently, a high frequency of <jats:styled-content style=\"fixed-case\">BRAFV<\/jats:styled-content>600E mutation has been reported in <jats:styled-content style=\"fixed-case\">OKC<\/jats:styled-content>. Because of the considerable recurrence rate of <jats:styled-content style=\"fixed-case\">OKC<\/jats:styled-content>, the identification of druggable genetic mutations can be relevant in the management of extensive lesions.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A set of 28 <jats:styled-content style=\"fixed-case\">OKC<\/jats:styled-content>s was included in this work. Initially, 10 sporadic and eight <jats:styled-content style=\"fixed-case\">OKC<\/jats:styled-content> samples from four <jats:styled-content style=\"fixed-case\">NBCCS<\/jats:styled-content> patients (a pair of lesions from each syndromic patient) were submitted to targeted next\u2010generation sequencing (<jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>) of 2800 different mutations in 50 oncogenes and tumor suppressor genes, including <jats:styled-content style=\"fixed-case\">BRAF<\/jats:styled-content>. Ten extra sporadic <jats:styled-content style=\"fixed-case\">OKC<\/jats:styled-content> samples were included to assess <jats:styled-content style=\"fixed-case\">BRAFV<\/jats:styled-content>600E mutation using TaqMan allele\u2010specific <jats:styled-content style=\"fixed-case\">qPCR<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The following missense mutations occurred in one case each: <jats:italic><jats:styled-content style=\"fixed-case\">ATM<\/jats:styled-content><\/jats:italic> p.Ser333Phe, <jats:italic><jats:styled-content style=\"fixed-case\">SMO<\/jats:styled-content><\/jats:italic> p.Gly416Glu, <jats:italic><jats:styled-content style=\"fixed-case\">PIK<\/jats:styled-content>3<jats:styled-content style=\"fixed-case\">CA<\/jats:styled-content><\/jats:italic> p.Ser326Phe, <jats:italic><jats:styled-content style=\"fixed-case\">FBXW<\/jats:styled-content>7<\/jats:italic> p.Ser438Phe, <jats:italic><jats:styled-content style=\"fixed-case\">JAK<\/jats:styled-content>2<\/jats:italic> p.Ser605Phe, <jats:italic><jats:styled-content style=\"fixed-case\">PTEN<\/jats:styled-content><\/jats:italic> p.Arg173His, <jats:italic><jats:styled-content style=\"fixed-case\">ATM<\/jats:styled-content><\/jats:italic> p.Cys353Arg, <jats:italic><jats:styled-content style=\"fixed-case\">PTEN<\/jats:styled-content><\/jats:italic> p.Ser294Arg, <jats:italic><jats:styled-content style=\"fixed-case\">MET<\/jats:styled-content><\/jats:italic> p.His1112Tyr. None of the 18 samples showed the <jats:styled-content style=\"fixed-case\">BRAFV<\/jats:styled-content>600E (or any other V600) mutation in the <jats:styled-content style=\"fixed-case\">NGS<\/jats:styled-content>. <jats:styled-content style=\"fixed-case\">BRAFV<\/jats:styled-content>600E mutation was detected by <jats:styled-content style=\"fixed-case\">qPCR<\/jats:styled-content> in one of the 10 <jats:styled-content style=\"fixed-case\">OKC<\/jats:styled-content>. Collectively, our results show <jats:styled-content style=\"fixed-case\">BRAFV<\/jats:styled-content>600E mutation in 1 of 28 <jats:styled-content style=\"fixed-case\">OKC<\/jats:styled-content> cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>On the basis of our results, <jats:styled-content style=\"fixed-case\">OKC<\/jats:styled-content>s do not present recurrent hotspot mutations in these 50 genes commonly mutated in cancer. In addition, <jats:styled-content style=\"fixed-case\">BRAFV<\/jats:styled-content>600E does not play a central role in <jats:styled-content style=\"fixed-case\">OKC<\/jats:styled-content> pathogenesis.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jop.12671","type":"journal-article","created":{"date-parts":[[2017,12,24]],"date-time":"2017-12-24T09:25:51Z","timestamp":1514107551000},"page":"186-191","source":"Crossref","is-referenced-by-count":17,"title":["Absence of <scp>BRAFV<\/scp>600E mutation in odontogenic keratocysts"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6005-783X","authenticated-orcid":false,"given":"Josiane Alves","family":"Fran\u00e7a","sequence":"first","affiliation":[{"name":"Department of Pathology Biological Sciences Institute Universidade Federal de Minas Gerais (UFMG) Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00edlvia Ferreira","family":"de Sousa","sequence":"additional","affiliation":[{"name":"Department of Dentistry, Health and Biological Sciences Institute Universidade Federal de Sergipe (UFS) Aracaju Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina Gon\u00e7alves","family":"Diniz","sequence":"additional","affiliation":[{"name":"Department of Oral Surgery and Pathology School of Dentistry Universidade Federal de Minas Gerais (UFMG) Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tha\u00eds dos Santos Fontes","family":"Pereira","sequence":"additional","affiliation":[{"name":"Department of Oral Surgery and Pathology School of Dentistry Universidade Federal de Minas Gerais (UFMG) Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taynara Asevedo Campos","family":"de Resende","sequence":"additional","affiliation":[{"name":"Department of Oral Surgery and Pathology School of Dentistry Universidade Federal de Minas Gerais (UFMG) Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Nunes dos","family":"Santos","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology School of Dentistry Universidade Federal da Bahia (UFBA) Salvador Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8770-8009","authenticated-orcid":false,"given":"Ricardo Santiago","family":"Gomez","sequence":"additional","affiliation":[{"name":"Department of Oral Surgery and Pathology School of Dentistry Universidade Federal de Minas Gerais (UFMG) Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1580-4995","authenticated-orcid":false,"given":"Carolina Cavalieri","family":"Gomes","sequence":"additional","affiliation":[{"name":"Department of Pathology Biological Sciences Institute Universidade Federal de Minas Gerais (UFMG) Belo Horizonte Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,1,11]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"235","volume-title":"WHO Classification of Head and Neck Tumours","author":"Speight P","year":"2017"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/jop.12591"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1746-160X-10-36"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oraloncology.2017.07.021"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.4317"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2986"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-14-1069"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13277-015-3238-0"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oraloncology.2015.07.010"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oraloncology.2017.09.016"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcms.2016.11.010"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/jop.12443"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2014.07.014"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.humpath.2014.08.018"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1158\/1535-7163.MCT-15-0615"}],"container-title":["Journal of Oral Pathology &amp; 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