{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T12:21:40Z","timestamp":1788956500441,"version":"build-2803163510"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2023,3,1]],"date-time":"2023-03-01T00:00:00Z","timestamp":1677628800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002301","name":"Eesti Teadusagentuur","doi-asserted-by":"publisher","award":["PRG471"],"award-info":[{"award-number":["PRG471"]}],"id":[{"id":"10.13039\/501100002301","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Pathogenic variants in <jats:italic>AXIN2<\/jats:italic> have been associated with tooth agenesis, colon polyps, and colon cancer. Given the rare nature of this phenotype, we set out to collect additional genotypic and phenotypic information.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Data were collected via a structured questionnaire. Sequencing was performed in these patients mostly due to diagnostic purpose. A little more than half of the <jats:italic>AXIN2<\/jats:italic> variant carriers were identified by NGS; other six were family members.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Here, we report 13 individuals with a heterozygous <jats:italic>AXIN2<\/jats:italic> pathogenic\/likely pathogenic variant who have a variable expression of oligodontia\u2010colorectal cancer syndrome (OMIM 608615) or oligodontia\u2010cancer predisposition syndrome (ORPHA 300576). Three individuals from one family also had cleft palate, which might represent a new clinical feature of <jats:italic>AXIN2<\/jats:italic> phenotype, also given the fact that <jats:italic>AXIN2<\/jats:italic> polymorphisms have been found in association with oral clefting in population studies. <jats:italic>AXIN2<\/jats:italic> has already been added to multigene cancer panel tests; further research should be conducted to determine whether it should be added to cleft lip\/palate multigene panels.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>More clarity about oligodontia\u2010colorectal cancer syndrome, about the variable expression, and associated cancer risks is needed to improve clinical management and to establish guidelines for surveillance. We collected information about the surveillance that was advised, which might support clinical management of these patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2157","type":"journal-article","created":{"date-parts":[[2023,3,2]],"date-time":"2023-03-02T06:41:42Z","timestamp":1677739302000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["AXIN2\u2010related oligodontia\u2010colorectal cancer syndrome with cleft palate as a possible new feature"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5727-6759","authenticated-orcid":false,"given":"Laura","family":"Roht","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Genetic and Personalized Medicine Clinic Tartu University Hospital  Tartu Estonia"},{"name":"Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hanne K.","family":"Hyldebrandt","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital  Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astrid T.","family":"Stormorken","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Oslo University Hospital  Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hilde","family":"Nordgarden","sequence":"additional","affiliation":[{"name":"Norwegian National Resource Centre for Oral Health in Rare Diagnosis Lovisenberg Diaconal Hospital  Oslo Norway"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rolf H.","family":"Sijmons","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen, University of Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis K.","family":"Bos","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen, University of Groningen  Groningen The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas","family":"Riegert\u2010Johnson","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Genomics Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Mantia\u2010Macklin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and Genomics Mayo Clinic  Jacksonville Florida USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilvi","family":"Ilves","sequence":"additional","affiliation":[{"name":"Department of Radiology Tartu University Hospital  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Muru","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Genetic and Personalized Medicine Clinic Tartu University Hospital  Tartu Estonia"},{"name":"Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica H.","family":"Wojcik","sequence":"additional","affiliation":[{"name":"Broad Institute of MIT and Harvard  Massachusetts Cambridge USA"},{"name":"Divisions of Genetics and Genomics and Newborn Medicine, Department of Pediatrics Boston Children's Hospital, Harvard Medical School  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiina","family":"Kahre","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Genetic and Personalized Medicine Clinic Tartu University Hospital  Tartu Estonia"},{"name":"Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4594-6364","authenticated-orcid":false,"given":"Katrin","family":"\u00d5unap","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Genetic and Personalized Medicine Clinic Tartu University Hospital  Tartu Estonia"},{"name":"Department of Clinical Genetics, Institute of Clinical Medicine University of Tartu  Tartu Estonia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,3]]},"reference":[{"key":"e_1_2_11_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689\u2010019\u201000120\u20100"},{"key":"e_1_2_11_1_3_1","doi-asserted-by":"publisher","DOI":"10.20517\/2573-0002.2018.11"},{"key":"e_1_2_11_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2009.04.021"},{"key":"e_1_2_11_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031385"},{"issue":"3","key":"e_1_2_11_1_6_1","first-page":"131","article-title":"Mutations in AXIN2 gene as a risk factor for tooth agenesis and cancer: A review","volume":"38","author":"Hlouskova A.","year":"2017","journal-title":"Neuroendocrinology Letters"},{"key":"e_1_2_11_1_7_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.158048"},{"key":"e_1_2_11_1_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/386293"},{"key":"e_1_2_11_1_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/0022034512440578"},{"key":"e_1_2_11_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20489"},{"key":"e_1_2_11_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2009.09.002"},{"key":"e_1_2_11_1_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/79859"},{"key":"e_1_2_11_1_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010020\u201001103\u20100"},{"key":"e_1_2_11_1_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13053\u2010020\u201000149\u20108"},{"key":"e_1_2_11_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.canlet.2014.09.018"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2157","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.2157","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.2157","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T16:09:45Z","timestamp":1692547785000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.2157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["10.1002\/mgg3.2157"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.2157","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3]]},"assertion":[{"value":"2022-08-02","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-02-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-03-01","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e2157"}}