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MUTYH-Associated Polyposis: The Irish Experience>

T P McVeigh1,2, M Duff1, C Carroll1

  • 1Department of Clinical Genetics, Our Lady's Children's Hospital Crumlin, Dublin 12.

Irish Medical Journal
|June 24, 2017
PubMed

Insights

MUTYH-associated polyposis (MAP) is under-diagnosed in Ireland. This study identified 26 individuals with bi-allelic MUTYH mutations, highlighting the need for increased awareness and surveillance for colorectal cancer.

Area of Science:

  • Genetics and Genomics
  • Oncology
  • Molecular Biology

Background:

  • MUTYH gene mutations are implicated in DNA repair.
  • Bi-allelic MUTYH mutations predispose individuals to polyposis and gastrointestinal cancers, distinct from familial adenomatous polyposis coli.
  • Two common European MUTYH mutations explain 90% of MUTYH-associated polyposis (MAP).

Purpose of the Study:

  • To investigate the incidence of MUTYH-associated polyposis (MAP) in Ireland.
  • To identify individuals with bi-allelic MUTYH mutations and their associated phenotypes.
  • To assess the diagnostic rate and regional distribution of MAP in Ireland.

Main Methods:

  • Retrospective cohort study of patients undergoing MUTYH testing between 2003 and 2016.
  • Electronic database searches using "MUTYH" and "MYH" terms.
  • Chart review for phenotypic and genotypic data, confirming bi-allelic mutations.

Main Results:

  • Twenty-six individuals (17 families) with bi-allelic MUTYH mutations were identified.
  • Of these, 62% developed colorectal malignancies and 85% had polyposis.
  • Eleven families carried bi-allelic status for common European mutations, with regional variation noted in carriers.

Conclusions:

  • MAP is under-diagnosed in the Irish population.
  • Increased awareness is crucial for early identification and surveillance of individuals with bi-allelic MUTYH mutations.
  • Targeted screening and surveillance can improve outcomes for colorectal pathology in MAP patients.

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