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A novel pathogenic frameshift variant in AXIN2 in a man with polyposis and hypodontia

M F Broekema1, E J W Redeker2, M T Uiterwaal3

  • 1Department of Human Genetics, Amsterdam UMC, Academic Medical Center, Amsterdam, The Netherlands. m.broekema@amsterdamumc.nl.

Hereditary Cancer in Clinical Practice
|August 25, 2023
PubMed
Abstract

Insights

Pathogenic germline mutations in the AXIN2 gene are linked to both hypodontia (missing teeth) and gastrointestinal cancers. This study highlights a novel mutation, reinforcing the genotype-phenotype correlation.

Area of Science:

  • Genetics
  • Developmental Biology
  • Oncology

Background:

  • WNT signaling is crucial for embryonic development and maintaining tissue balance.
  • Dysregulation of WNT signaling, often due to gene mutations, is implicated in various cancers, notably colorectal cancer.
  • AXIN2, a key regulator of WNT signaling, is associated with tooth development and gastrointestinal cancer predisposition when mutated.

Purpose of the Study:

  • To report a novel germline mutation in the AXIN2 gene.
  • To investigate the genotype-phenotype relationship in patients with AXIN2 mutations.
  • To provide an updated literature review of AXIN2 germline mutations.

Main Methods:

  • Case study of a 55-year-old male with colorectal polyposis and hypodontia.
  • Genetic testing to identify mutations in the AXIN2 gene.
  • Literature review of previously reported AXIN2 germline mutations.

Main Results:

  • A novel frameshift germline mutation in exon 8 of the AXIN2 gene was identified in the patient.
  • The patient presented with colorectal polyposis and hypodontia.
  • An updated overview of reported germline AXIN2 mutations was compiled.

Conclusions:

  • This case provides further evidence linking rare pathogenic AXIN2 germline mutations to both hypodontia and gastrointestinal neoplasia.
  • The severity of hypodontia may vary among patients with AXIN2 mutations.
  • AXIN2 mutations represent a significant genetic factor in the development of certain gastrointestinal cancers.
Keywords:
AXIN2Colorectal cancerHypodontiaOligodontiaPolyposisPolypsWNT signaling

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