{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T13:24:54Z","timestamp":1767705894928},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T00:00:00Z","timestamp":1676937600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100005648","name":"American Association of Orthodontists Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005648","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Oral Pathology Medicine"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Ameloblastomas are a group of relatively\u00a0common odontogenic tumors that frequently\u00a0originate from the dental epithelium. These tumors are aggressive in nature and present as slow\u2010growing painless cortical expansion of the jaw. Histologically, the follicular and plexiform subtypes constitute two\u2010thirds of solid\/multicystic ameloblastomas. The objective of this study was to understand the genetic architecture of follicular and plexiform ameloblastomas using deep whole\u2010exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Archived formalin\u2010fixed paraffin\u2010embedded tissue blocks of follicular (<jats:italic>n<\/jats:italic>\u00a0=\u20094) and plexiform (<jats:italic>n<\/jats:italic>\u00a0=\u20096) ameloblastomas were retrieved and genomic DNAs were isolated from the tumor tissue dissected from the formalin\u2010fixed paraffin\u2010embedded block. The exomes were enriched using the Integrated DNA Technologies\u00a0Exome Research Panel (IDT, Coralville, IA) and paired\u2010end sequencing was completed on an Illumina NovaSeq 6000 with an average output of 20\u2009GB of data resulting in a mean coverage of 400\u00d7. Variant analysis was completed using custom\u2010developed software: Rapid Understanding of Nucleotide variant Effect Software and variant integration and knowledge interpretation in genomes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our analyses focused on examining somatic variants (gnomAD minor allele frequency\u2009\u22641%) in genes found on an Food\u00a0and\u00a0Drug\u00a0Administration\u00a0\u2010approved clinical cancer sequencing panel (FoundationOne\u00aeCDx). In follicular tumors, variants (&gt;20% of the reads) were identified in <jats:italic>BRAF, KMT2D<\/jats:italic>, and <jats:italic>ABL1<\/jats:italic> genes. In plexiform tumors, variants (&gt;20% of the reads) were identified in <jats:italic>ALK, BRAF, KRAS, KMT2D, SMO, KMT2A<\/jats:italic>, and <jats:italic>BRCA2<\/jats:italic> genes. Enrichment analysis showed a significant role of DNA repair genes in the development of these tumors.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The variants identified in follicular and plexiform ameloblastomas were enriched in DNA\u2010repair genes. The observed genetic heterogeneity in these ameloblastomas may contribute to the aggressive nature and recurrence risk of these tumors.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jop.13410","type":"journal-article","created":{"date-parts":[[2023,1,30]],"date-time":"2023-01-30T13:31:52Z","timestamp":1675085512000},"page":"263-270","update-policy":"http:\/\/dx.doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Genetic heterogeneity and enrichment of variants in <scp>DNA\u2010repair<\/scp> genes in ameloblastoma"],"prefix":"10.1111","volume":"52","author":[{"given":"Waheed","family":"Awotoye","sequence":"first","affiliation":[{"name":"Iowa Institute for Oral Health Research University of Iowa  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph Craig","family":"Whitt","sequence":"additional","affiliation":[{"name":"School of Dentistry University of Missouri Kansas City  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Byunggil","family":"Yoo","sequence":"additional","affiliation":[{"name":"Children's Mercy Hospital Center for Pediatric Genomic Medicine  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Midhat S.","family":"Farooqi","sequence":"additional","affiliation":[{"name":"Department of Pathology, Children's Mercy Hospital University of Missouri\u2014Kansas City School of Medicine  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emily G.","family":"Farrow","sequence":"additional","affiliation":[{"name":"Children's Mercy Hospital Center for Pediatric Genomic Medicine  Kansas City Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veerasathpurush","family":"Allareddy","sequence":"additional","affiliation":[{"name":"Department of Orthodontics University of Illinois Chicago, College of Dentistry  Chicago Illinois USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brad A.","family":"Amendt","sequence":"additional","affiliation":[{"name":"Department of Anatomy &amp; Cell Biology University of Iowa  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shankar","family":"Rengasamy Venugopalan","sequence":"additional","affiliation":[{"name":"Iowa Institute for Oral Health Research University of Iowa  Iowa City Iowa USA"},{"name":"School of Dentistry University of Missouri Kansas City  Kansas City Missouri USA"},{"name":"Department of Orthodontics University of Iowa College of Dentistry and Dental Clinics  Iowa City Iowa USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,2,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.2006.00437.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.2009.00850.x"},{"key":"e_1_2_8_4_1","volume-title":"Oral Pathology: Clinical Pathologic Correlations","author":"Regezi JA","year":"2016"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2009.11.022"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1010-5182(96)80006-0"},{"key":"e_1_2_8_7_1","volume-title":"World Health Organization Classification of Tumours: Pathology and Genetics of Head and Neck Tumours","author":"Barnes L","year":"2005"},{"key":"e_1_2_8_8_1","volume-title":"Pathology and Genetics of Head and Neck Tumours","author":"Barnes L","year":"2005"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.4103\/0975-5950.85849"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/odi.12646"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.4103\/0973-029X.190954"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/froh.2021.740788"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/path.4317"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41368-022-00170-8"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-14-1069"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2986"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2514"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-021-00835-9"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12859-015-0611-3"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.4161\/cbt.1.5.160"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.4103\/0973-029X.185937"},{"issue":"7","key":"e_1_2_8_22_1","first-page":"E26","article-title":"Ameloblastomas of the mandible and maxilla","volume":"97","author":"Petrovic ID","year":"2018","journal-title":"Ear Nose Throat J"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-016-1141-7"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2016.44"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.4317\/medoral.24385"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.5306\/wjco.v11.i1.31"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/em.22087"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/jop.12807"}],"container-title":["Journal of Oral Pathology &amp; 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