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Germline variant testing in serrated polyposis syndrome.

Aisling Murphy1, Joyce Solomons2, Peter Risby2

  • 1Translational Gastroenterology Unit, Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.

Journal of Gastroenterology and Hepatology
|February 7, 2022
PubMed
Summary

Serrated polyposis syndrome (SPS) genetic testing reveals germline variants in 20.5% of patients, with new associations found. Current guidelines may miss these cases, impacting patient management.

Keywords:
colongeneticspolyposis

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Area of Science:

  • Gastroenterology
  • Genetics
  • Oncology

Background:

  • Serrated polyposis syndrome (SPS) is the most common polyposis syndrome.
  • Previous germline variant analyses in SPS have yielded inconsistent results.
  • Current British Society of Gastroenterology (BSG) guidelines recommend gene panel testing for SPS under specific criteria.

Purpose of the Study:

  • To investigate the prevalence of germline variants in patients diagnosed with Serrated polyposis syndrome (SPS).
  • To assess the concordance of identified germline variants with current BSG guidelines for genetic testing.
  • To identify potential new genetic associations in SPS patients.

Main Methods:

  • A database of SPS patients was established at Oxford University Hospitals NHS Foundation Trust.
  • Patients underwent genetic assessment based on clinical history and preference.
  • Hereditary colorectal cancer gene panels were utilized for testing, including genes like MUTYH, APC, and Lynch syndrome mismatch repair genes.

Main Results:

  • 173 patients were diagnosed with SPS between 2010-2020.
  • Genetic testing in 73 patients identified germline variants in 20.5% (15/73), with 9.6% (7/73) having pathogenic variants.
  • Only 60% of these patients met current BSG criteria for gene panel testing.

Conclusions:

  • 20.5% of tested SPS patients carried heterozygous germline variants, including novel associations with CHEK2 and POLD1.
  • Genetic findings led to a change in management for 9.6% of patients.
  • Current BSG recommendations may underestimate the frequency of germline variants in SPS.