ArticleFamilial cancer2019
Phenotypic confirmation of oligodontia, colorectal polyposis and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene.
Article in Familial cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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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
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 27 citations in OpenAlex.
- 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
- Uncovering phenotypic expansion in AXIN2-related disorders through precision animal modeling.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- The 'other' colonic polyposis syndromes-evolving insights and guidance for endoscopists.International journal of colorectal disease · 2026Review
- Genetic predisposition to polyposis syndromes.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Review
- Congenital Tooth Agenesis and Risk of Early-Onset Cancer.JAMA network open · 2024Article
- Genomic and epigenomic basis of breast invasive lobular carcinomas lacking CDH1 genetic alterations.NPJ precision oncology · 2024Article
- 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-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.Molecular genetics & genomic medicine · 2023Article
- 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
- Rare germline variants in the AXIN2 gene in families with colonic polyposis and colorectal cancer.Familial cancer · 2022Article
- Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes : Analysis of a Turkish cohort.Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie · 2022Article
- The Profile of Articles onJournal of empirical research on human research ethics : JERHRE · 2022Article
- Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing.Molecular genetics & genomic medicine · 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
- How many is too many? Polyposis syndromes and what to do next.Current opinion in gastroenterology · 2022Review
- Evaluation of Classic, Attenuated, and Oligopolyposis of the Colon.Gastrointestinal endoscopy clinics of North America · 2022Review
- Analyses of oligodontia phenotypes and genetic etiologies.International journal of oral science · 2021Article
- Case report expanding the germline AXIN2- related phenotype to include olfactory neuroblastoma and gastric adenoma.BMC medical genetics · 2020Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The AXIN2 gene, like APC, plays a role in the Wnt signalling pathway involved in colorectal tumour formation. Heterozygous mutations in AXIN2 have been shown to cause ectodermal dysplasia (including tooth agenesis, or more specifically, oligodontia), and, in some carriers, colorectal cancer and/or adenomatous polyposis develops. There is a paucity of published AXIN2 families making genotype-phenotype (polyposis, colorectal cancer and oligodontia) correlations challenging. In this case report we describe a family with c.1972delA, p.Ser658Alafs*31 nonsense variant in AXIN2 where the three confirmed carriers presented with both oligodontia and colorectal adenomatous polyposis; mean number of teeth missing in carriers was 16.5 (range 11-22) and mean number of polyps in carriers was 49 (range 5->100, polyps were predominantly adenomatous). This highlights the importance of confirming phenotypic information in familial polyposis, to guide appropriate genetic investigations, as well as providing additional phenotypic and penetrance data to aid in clinical risk management recommendations. Our experience supports the inclusion of AXIN2 on panels for testing of patients with polyposis.
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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.