Associated Papers
Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern.
Geng C et al.
Bmc Oral Health, 2025
Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.
Aceves-Ewing NM et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.
Broekema MF et al.
Hereditary Cancer in Clinical Practice, 2023
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Leclerc J et al.
Genes, Chromosomes & Cancer, 2023
Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.
Chan JM et al.
Familial Cancer, 2022
Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?
Jensen JM et al.
Familial Cancer, 2022
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Mao R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Molecular profiling of basal cell carcinomas in young patients.
Abi Karam M et al.
Bmc Medical Genomics, 2021
Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.
Macklin-Mantia SK et al.
Bmc Medical Genetics, 2020
Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.
Beard C et al.
Familial Cancer, 2019
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 3.2017.
Gupta S et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2017
Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis.
Yue H et al.
European Journal of Oral Sciences, 2016
An AXIN2 Mutant Allele Associated With Predisposition to Colorectal Neoplasia Has Context-Dependent Effects on AXIN2 Protein Function.
Mazzoni SM et al.
Neoplasia (new York, N.y.), 2015
A Novel AXIN2 Missense Mutation Is Associated with Non-Syndromic Oligodontia.
Liu H et al.
Plos One, 2015
AXIN1 and AXIN2 variants in gastrointestinal cancers.
Mazzoni SM et al.
Cancer Letters, 2014
Colorectal cancer and self-reported tooth agenesis.
Lindor NM et al.
Hereditary Cancer in Clinical Practice, 2014
Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia.
Wong S et al.
Archives of Oral Biology, 2014
AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
Marvin ML et al.
American Journal of Medical Genetics. Part A, 2011