{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T15:36:58Z","timestamp":1786981018514,"version":"build-2736575974"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2021,10,12]],"date-time":"2021-10-12T00:00:00Z","timestamp":1633996800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,10,12]],"date-time":"2021-10-12T00:00:00Z","timestamp":1633996800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2022,7]]},"DOI":"10.1007\/s10689-021-00280-y","type":"journal-article","created":{"date-parts":[[2021,10,12]],"date-time":"2021-10-12T19:33:30Z","timestamp":1634067210000},"page":"325-332","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?"],"prefix":"10.1007","volume":"21","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8028-9139","authenticated-orcid":false,"given":"Janni M.","family":"Jensen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Skakkeb\u00e6k","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette","family":"Gaustadness","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mette","family":"Sommerlund","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans","family":"Gj\u00f8rup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken","family":"Ljungmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte K.","family":"Lautrup","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lone","family":"Sunde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,10,12]]},"reference":[{"issue":"5","key":"280_CR1","doi-asserted-by":"publisher","first-page":"1043","DOI":"10.1086\/386293","volume":"74","author":"L Lammi","year":"2004","unstructured":"Lammi L, Arte S, Somer M et al (2004) Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet 74(5):1043\u20131050. https:\/\/doi.org\/10.1086\/386293","journal-title":"Am J Hum Genet"},{"issue":"3","key":"280_CR2","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1038\/ejhg.2013.146","volume":"22","author":"B Rivera","year":"2014","unstructured":"Rivera B, Perea J, S\u00e1nchez E et al (2014) A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia. Eur J Hum Genet 22(3):423\u2013426. https:\/\/doi.org\/10.1038\/ejhg.2013.146","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"280_CR3","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1002\/ajmg.a.33927","volume":"155A","author":"ML Marvin","year":"2011","unstructured":"Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM (2011) AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. Am J Med Genet A 155A(4):898\u2013902. https:\/\/doi.org\/10.1002\/ajmg.a.33927","journal-title":"Am J Med Genet A"},{"issue":"3","key":"280_CR4","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1007\/s10689-019-00120-0","volume":"18","author":"C Beard","year":"2019","unstructured":"Beard C, Purvis R, Winship IM, Macrae FA, Buchanan DD (2019) Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene. Fam Cancer 18(3):311\u2013315. https:\/\/doi.org\/10.1007\/s10689-019-00120-0","journal-title":"Fam Cancer"},{"issue":"1\u20132","key":"280_CR5","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1159\/000056942","volume":"93","author":"X Dong","year":"2001","unstructured":"Dong X, Seelan RS, Qian C, Mai M, Liu W (2001) Genomic structure, chromosome mapping and expression analysis of the human AXIN2 gene. Cytogenet Cell Genet 93(1\u20132):26\u201328. https:\/\/doi.org\/10.1159\/000056942","journal-title":"Cytogenet Cell Genet"},{"issue":"5363","key":"280_CR6","doi-asserted-by":"publisher","first-page":"596","DOI":"10.1126\/science.280.5363.596","volume":"280","author":"J Behrens","year":"1998","unstructured":"Behrens J, Jerchow BA, W\u00fcrtele M et al (1998) Functional interaction of an axin homolog, conductin, with beta-catenin, APC, and GSK3beta. Science 280(5363):596\u2013599. https:\/\/doi.org\/10.1126\/science.280.5363.596","journal-title":"Science"},{"issue":"4","key":"280_CR7","doi-asserted-by":"publisher","first-page":"273","DOI":"10.1016\/s1359-6101(00)00011-3","volume":"11","author":"T Akiyama","year":"2000","unstructured":"Akiyama T (2000) Wnt\/beta-catenin signaling. Cytokine Growth Factor Rev 11(4):273\u2013282. https:\/\/doi.org\/10.1016\/s1359-6101(00)00011-3","journal-title":"Cytokine Growth Factor Rev"},{"issue":"1","key":"280_CR8","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1016\/j.devcel.2009.06.016","volume":"17","author":"BT MacDonald","year":"2009","unstructured":"MacDonald BT, Tamai K, He X (2009) Wnt\/beta-catenin signaling: components, mechanisms, and diseases. Dev Cell 17(1):9\u201326. https:\/\/doi.org\/10.1016\/j.devcel.2009.06.016","journal-title":"Dev Cell"},{"issue":"1","key":"280_CR9","doi-asserted-by":"publisher","first-page":"95","DOI":"10.1016\/s0959-437x(98)80068-3","volume":"8","author":"K Willert","year":"1998","unstructured":"Willert K, Nusse R (1998) Beta-catenin: a key mediator of Wnt signaling. Curr Opin Genet Dev 8(1):95\u2013102. https:\/\/doi.org\/10.1016\/s0959-437x(98)80068-3","journal-title":"Curr Opin Genet Dev"},{"issue":"5","key":"280_CR10","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/sj.bdj.4809925","volume":"194","author":"JH Nunn","year":"2003","unstructured":"Nunn JH, Carter NE, Gillgrass TJ et al (2003) The interdisciplinary management of hypodontia: background and role of paediatric dentistry. Br Dent J 194(5):245\u2013251. https:\/\/doi.org\/10.1038\/sj.bdj.4809925","journal-title":"Br Dent J"},{"issue":"1","key":"280_CR11","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1016\/j.jmoldx.2016.10.002","volume":"19","author":"MM Li","year":"2017","unstructured":"Li MM, Datto M, Duncavage EJ et al (2017) Standards and guidelines for the interpretation and reporting of sequence variants in cancer: a joint consensus recommendation of the association for molecular pathology, american society of clinical oncology, and college of american pathologists. J Mol Diagn 19(1):4\u201323. https:\/\/doi.org\/10.1016\/j.jmoldx.2016.10.002","journal-title":"J Mol Diagn"},{"issue":"7","key":"280_CR12","doi-asserted-by":"publisher","first-page":"1616","DOI":"10.1002\/ajmg.a.34045","volume":"155A","author":"B Bergendal","year":"2011","unstructured":"Bergendal B, Klar J, Stecks\u00e9n-Blicks C, Norderyd J, Dahl N (2011) Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. Am J Med Genet A 155A(7):1616\u20131622. https:\/\/doi.org\/10.1002\/ajmg.a.34045","journal-title":"Am J Med Genet A"},{"key":"280_CR13","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1186\/s13053-020-00149-8","volume":"18","author":"SK Macklin-Mantia","year":"2020","unstructured":"Macklin-Mantia SK, Riegert-Johnson DL (2020) An American patient with polyposis carrying a Scandinavian. Hered Cancer Clin Pract 18:14. https:\/\/doi.org\/10.1186\/s13053-020-00149-8","journal-title":"Hered Cancer Clin Pract"},{"issue":"2","key":"280_CR14","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1007\/s10689-016-9934-0","volume":"16","author":"A Rohlin","year":"2017","unstructured":"Rohlin A, Rambech E, Kvist A et al (2017) Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. Fam Cancer 16(2):195\u2013203. https:\/\/doi.org\/10.1007\/s10689-016-9934-0","journal-title":"Fam Cancer"},{"issue":"4","key":"280_CR15","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1111\/cge.12994","volume":"92","author":"MF Hansen","year":"2017","unstructured":"Hansen MF, Johansen J, Sylvander AE et al (2017) Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. Clin Genet 92(4):405\u2013414. https:\/\/doi.org\/10.1111\/cge.12994","journal-title":"Clin Genet"},{"issue":"1","key":"280_CR16","doi-asserted-by":"publisher","first-page":"1","DOI":"10.5496\/wjmg.v8.i1.1","volume":"8","author":"A Lamba","year":"2018","unstructured":"Lamba A, Oarekh P, Dvorak CT, Karlitz JJ (2018) Pedigree analysis supports a correlation between an AXIN2 variant and polyposis\/colorectal cancer. World J Med Gen 8(1):1\u20134","journal-title":"World J Med Gen"},{"issue":"9","key":"280_CR17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0138221","volume":"10","author":"H Liu","year":"2015","unstructured":"Liu H, Ding T, Zhan Y, Feng H (2015) A novel AXIN2 missense mutation is associated with non-syndromic oligodontia. PLoS One 10(9):e0138221. https:\/\/doi.org\/10.1371\/journal.pone.0138221","journal-title":"PLoS One"},{"issue":"3","key":"280_CR18","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1016\/j.archoralbio.2013.12.009","volume":"59","author":"S Wong","year":"2014","unstructured":"Wong S, Liu H, Bai B et al (2014) Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia. Arch Oral Biol 59(3):349\u2013353. https:\/\/doi.org\/10.1016\/j.archoralbio.2013.12.009","journal-title":"Arch Oral Biol"},{"issue":"3","key":"280_CR19","first-page":"131","volume":"38","author":"A Hlouskova","year":"2017","unstructured":"Hlouskova A, Bielik P, Bonczek O, Balcar VJ, \u0160er\u00fd O (2017) Mutations in AXIN2 gene as a risk factor for tooth agenesis and cancer: a review. Neuro Endocrinol Lett 38(3):131\u2013137","journal-title":"Neuro Endocrinol Lett"},{"issue":"6","key":"280_CR20","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1089\/gtmb.2018.0309","volume":"23","author":"J Dai","year":"2019","unstructured":"Dai J, Gao H, Xue J, Lin W, Zheng L (2019) The association between AXIN2 gene polymorphisms and the risk of breast cancer in chinese women. Genet Test Mol Biomarkers 23(6):393\u2013400. https:\/\/doi.org\/10.1089\/gtmb.2018.0309","journal-title":"Genet Test Mol Biomarkers"},{"issue":"1","key":"280_CR21","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1186\/s12881-020-01103-0","volume":"21","author":"SK Macklin-Mantia","year":"2020","unstructured":"Macklin-Mantia SK, Hines SL, Chaichana KL et al (2020) Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma. BMC Med Genet 21(1):161. https:\/\/doi.org\/10.1186\/s12881-020-01103-0","journal-title":"BMC Med Genet"},{"key":"280_CR22","unstructured":"Network NCC (2017) NCCN guidelines. Genetic\/familial high-risk assessment: colorectalcancer"},{"key":"280_CR23","unstructured":"(DKS) DSoMGDaDSS (2020) Guideline: examination and follow-up for hereditary\u00a0polypose syndromes (Udredning og opf\u00f8lgning for arvelige polyposesyndromer)"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-021-00280-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10689-021-00280-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-021-00280-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,16]],"date-time":"2022-06-16T03:19:21Z","timestamp":1655349561000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10689-021-00280-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,12]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["280"],"URL":"https:\/\/doi.org\/10.1007\/s10689-021-00280-y","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,10,12]]},"assertion":[{"value":"9 May 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 October 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 October 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare to have no financial or non-financial relationships relevant to this article to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Approvement from national ethics comity not needed.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all participants.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}},{"value":"All participants signed informed consent regarding publishing their data.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}}]}}