ArticleAmerican journal of medical genetics. Part A2011
AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome.
Article in American journal of medical genetics. Part A, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 6 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
48 citing papers in PubMed, 6 syntheses or guidelines pooled it, 92 citations in OpenAlex.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- Two novel AXIN2 variants in isolated tooth agenesis and the AXIN2-associated tooth agenesis pattern.BMC oral health · 2025Pooled it
- AXIN2 variants, tooth agenesis, and cancer risk: a systematic review.BMC oral health · 2025Pooled it
- Association between tooth agenesis and cancer: a systematic review.Journal of applied oral science : revista FOB · 2021Pooled it
- Signal transduction pathway mutations in gastrointestinal (GI) cancers: a systematic review and meta-analysis.Scientific reports · 2020Pooled it
- Genetic background of nonsyndromic oligodontia: a systematic review and meta-analysis.Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie · 2013Pooled it
- Trial
- Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Familial Adenomatous Polyposis-Risk of Cancer, Cancer Prevention, and Long-Term Consequences: Learnings from Five Decades with the Danish Polyposis Register.APMIS : acta pathologica, microbiologica, et immunologica Scandinavica · 2026Review
- Wnt Signaling Across Adult Skin Mini-Organs: Interfollicular Epidermis, Hair Follicle, and Nail-Implications for Disease and Regeneration.International journal of molecular sciences · 2026Review
- Oligodontia in the Clinical Spectrum of Syndromes: A Systematic Review.Dentistry journal · 2023Review
- A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia.Hereditary cancer in clinical practice · 2023Article
- Genotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis.Digestive diseases and sciences · 2023Review
- AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.Genes, chromosomes & cancer · 2023Article
- Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?International journal of molecular sciences · 2023Review
- Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing.Molecular genetics & genomic medicine · 2022Article
- Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.Familial cancer · 2022Article
- Non-syndromic familial congenital dental deficiency: two cases report.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2022Article
- Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?Familial cancer · 2022Article
- Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis.Cancers · 2022Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
We describe a family with a novel, inherited AXIN2 mutation (c.1989G>A) segregating in an autosomal dominant pattern with oligodontia and variable other findings including colonic polyposis, gastric polyps, a mild ectodermal dysplasia phenotype with sparse hair and eyebrows, and early onset colorectal and breast cancers. This novel mutation predicts p.Trp663X, which is a truncated protein that is missing the last three exons, including the DIX (Disheveled and AXIN interacting) domain. This nonsense mutation is predicted to destroy the inhibitory action of AXIN2 on WNT signaling. Previous authors have described an unrelated family with autosomal dominant oligodontia and a variable colorectal phenotype segregating with a nonsense mutation of AXIN2, as well as a frameshift AXIN2 mutation in an unrelated individual with oligodontia. Our report provides additional evidence supporting an autosomal dominant AXIN2-associated ectodermal dysplasia and neoplastic syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.