Steinhart Z, Angers S. Wnt signaling in development and tissue homeostasis. Development. 2018;145:dev146589. Available from: http://dev.biologists.org/content/145/11/dev146589.
Bugter JM, Fenderico N, Maurice MM. Mutations and mechanisms of WNT pathway tumour suppressors in cancer. Nat Rev Cancer. 2021;21(1):5–21. https://doi.org/10.1038/s41568-020-00307-z.
Nusse R, Clevers H. Wnt/β-Catenin Signaling, Disease, and emerging therapeutic modalities. Cell. 2017;169:985–99. Available from: https://www.sciencedirect.com/science/article/pii/S0092867417305470.
Article CAS PubMed Google Scholar
Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, et al. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science (80-). 1991;253:665-LP−669. Available from: http://science.sciencemag.org/content/253/5020/665.abstract.
Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell Elsevier. 1991;66:589–600. https://doi.org/10.1016/0092-8674(81)90021-0.
Network CGA. Comprehensive molecular characterization of human colon and rectal cancer. Nature. 2012;487:330–7. Available from: https://pubmed.ncbi.nlm.nih.gov/22810696.
Lammi L, Arte S, Somer M, Jarvinen H, Lahermo P, Thesleff I, et al. Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer. Am J Hum Genet. 2004;74:1043–50 (The American Society of Human Genetics) Available from: https://pubmed.ncbi.nlm.nih.gov/22810696.
Article CAS PubMed PubMed Central Google Scholar
Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM. AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. Am J Med Genet A. 2011;155A:898–902.
Beard C, Purvis R, Winship IM, Macrae FA, Buchanan DD. Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene. Fam Cancer Netherlands. 2019;18:311–5.
Rivera B, Perea J, Sánchez E, Villapún M, Sánchez-Tomé E, Mercadillo F, et al. A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia. Eur J Hum Genet. 2014;22:423–6.
Article CAS PubMed Google Scholar
Macklin- Mantia SK, Hines SL, Chaichana KL, Donaldson AM, Ko SL, Zhai Q, et al. Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma. BMC Med Genet. 2020;21:161. https://doi.org/10.1186/s12881-020-01103-0.
Article CAS PubMed PubMed Central Google Scholar
Macklin-Mantia SK, Riegert-Johnson DL. An American patient with polyposis carrying a Scandinavian AXIN2 pathogenic variant. Hered Cancer Clin Pract. 2020;18:14. https://doi.org/10.1186/s13053-020-00149-8.
Article PubMed PubMed Central Google Scholar
Hamzaoui N, Alarcon F, Leulliot N, Guimbaud R, Buecher B, Colas C, et al. Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction. Genet Med United States. 2020;22:1533–41.
Rohlin A, Rambech E, Kvist A, Törngren T, Eiengård F, Lundstam U, et al. Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing. Fam Cancer. 2017;16:195–203.
Article CAS PubMed Google Scholar
Hansen MF, Johansen J, Sylvander AE, Bjørnevoll I, Talseth-Palmer BA, Lavik LAS, et al. Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome. Clin Genet Denmark. 2017;92:405–14.
Jensen JM, Skakkebæk A, Gaustadness M, Sommerlund M, Gjørup H, Ljungmann K, et al. Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes? Fam Cancer Netherlands. 2022;21:325–32.
Chan JM, Clendenning M, Joseland S, Georgeson P, Mahmood K, Walker R, et al. Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer. Fam Cancer Netherlands. 2022;21:399–413.
Polder BJ, Van’t MA, Van der Linden FPGM, Kuijpers-Jagtman AM. A meta-analysis of the prevalence of dental agenesis of permanent teeth. Community Dent Oral Epidemiol. 2004;32:217–26. https://doi.org/10.1111/j.1600-0528.2004.00158.x. (Wiley & Sons, Ltd).
Liu W, Dong X, Mai M, Seelan RS, Taniguchi K, Krishnadath KK, et al. Mutations in AXIN2 cause colorectal cancer with defective mismatch repair by activating beta-catenin/TCF signalling. Nat Genet United States. 2000;26:146–7.
Pedace L, Castiglia D, De Simone P, Castori M, De Luca N, Amantea A, et al. AXIN2 germline mutations are rare in familial melanoma. Genes Chromosomes Cancer. 2011;50(5):370–3. https://doi.org/10.1002/gcc.20855.
Jho E, Zhang T, Domon C, Joo C-K, Freund J-N, Costantini F. Wnt/beta-catenin/Tcf signaling induces the transcription of Axin2, a negative regulator of the signaling pathway. Mol Cell Biol. 2002;22:1172–83.
Article CAS PubMed PubMed Central Google Scholar
Lustig B, Jerchow B, Sachs M, Weiler S, Pietsch T, Karsten U, et al. Negative feedback loop of Wnt signaling through upregulation of conductin/axin2 in colorectal and liver tumors. Mol Cell Biol. 2002;22:1184–93.
Article CAS PubMed PubMed Central Google Scholar
Dong X, Seelan RS, Qian C, Mai M, Liu W. Genomic structure, chromosome mapping and expression analysis of the human AXIN2 gene. Cytogenet Cell Genet Switzerland. 2001;93:26–8.
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001;29(1):308–11. https://doi.org/10.1093/nar/29.1.308.
Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581:434–43. https://doi.org/10.1038/s41586-020-2308-7.
Article CAS PubMed PubMed Central Google Scholar
Bergendal B, Klar J, Stecksén-Blicks C, Norderyd J, Dahl N. Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes. Am J Med Genet A United State. 2011;155A:1616–22.
Sato T, Vries RG, Snippert HJ, van de Wetering M, Barker N, Stange DE, et al. Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche. Nature England. 2009;459:262–5.
Rosowski J, Bräunig J, Amler A-K, Strietzel FP, Lauster R, Rosowski M. Emulating the early phases of human tooth development in vitro. Sci Rep. 2019;9:7057. https://doi.org/10.1038/s41598-019-43468-0.
Article CAS PubMed PubMed Central Google Scholar
Merenda A, Fenderico N, Maurice MM. Wnt signaling in 3d: recent advances in the applications of intestinal organoids. Trends Cell Biol Elsevier. 2020;30:60–73. https://doi.org/10.1016/j.tcb.2019.10.003.
Comments (0)