Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Genetics(clinical),Oncology,Genetics
Link
https://link.springer.com/content/pdf/10.1007/s10689-021-00280-y.pdf
Reference23 articles.
1. 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):1043–1050. https://doi.org/10.1086/386293
2. Rivera B, Perea J, Sánchez 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):423–426. https://doi.org/10.1038/ejhg.2013.146
3. 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):898–902. https://doi.org/10.1002/ajmg.a.33927
4. 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):311–315. https://doi.org/10.1007/s10689-019-00120-0
5. 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(1–2):26–28. https://doi.org/10.1159/000056942
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