title: AXIN1 and AXIN2 variants in gastrointestinal cancers.
abstract: Mutations in the APC (adenomatous polyposis coli) gene, which encodes a multi-functional protein with a well-defined role in the canonical Wnt pathway, underlie familial adenomatous polypsosis, a rare, inherited form of colorectal cancer (CRC) and contribute to the majority of sporadic CRCs. However, not all sporadic and familial CRCs can be explained by mutations in APC or other genes with well-established roles in CRC. The AXIN1 and AXIN2 proteins function in the canonical Wnt pathway, and AXIN1/2 alterations have been proposed as key defects in some cancers. Here, we review AXIN1 and AXIN2 sequence alterations reported in gastrointestinal cancers, with the goal of vetting the evidence that some of the variants may have key functional roles in cancer development.
authors.affiliation: Department of Human Genetics, University of Michigan Medical School, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA.
authors.forename: Serina M
authors.initials: SM
authors.lastname: Mazzoni
authors.affiliation: Department of Human Genetics, University of Michigan Medical School, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA; Department of Internal Medicine, University of Michigan Medical School, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA; Department of Pathology, University of Michigan Medical School, 109 Zina Pitcher Place, Ann Arbor, MI 48109-2200, USA. Electronic address: fearon@umich.edu.
authors.forename: Eric R
authors.initials: ER
authors.lastname: Fearon
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D060466:Axin Protein / Q000235:genetics* / Q000378:metabolism; D006528:Carcinoma, Hepatocellular / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D005770:Gastrointestinal Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D020022:Genetic Predisposition to Disease; D018197:Hepatoblastoma / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006801:Humans; D008113:Liver Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D012307:Risk Factors; D060449:Wnt Signaling Pathway / Q000235:genetics
chemical_list: C555451:AXIN1 protein, human; C491761:AXIN2 protein, human; D060466:Axin Protein
keywords: Beta-catenin; Colon cancer; Gastric cancer; Hepatocellular carcinoma; Wnt signaling