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Keywords:

  • base-excision repair pathway;
  • colonic neoplasm;
  • DNA glycosylase;
  • familial cancer;
  • MUTYH-associated neoplasia

Abstract

Background:  Mutations in the MUTYH gene,which codes for a base excision repair protein, have recently been found to cause an autosomal recessive syndrome characterized by multiple colorectal adenomas and increased risk of colorectal cancer. To identify key areas for clinical research, it is necessary to understand the current management of MUTYH-associated neoplasia.

Methods:  Twelve questionnaires were sent to experts from familial colorectal cancer services throughout Australia, including representatives from all Australian states. The questionnaire was designed to clarify the practical management of MUTYH-associated neoplasia in the patient and their family.

Results:  All 12 questionnaires were returned. For patients with fewer than 100 colorectal adenomas, and no dominant family history of colorectal neoplasia, most respondents carried out MUTYH testing before or concomitantly with APC. Australian laboratories generally carried out an intial directed analysis of the MUTYH gene for the two common mutations Y165C and G382D. For patients with biallelic MUTYH mutations all respondents endorsed regular colonoscopy surveillance with an interval of 1–2 years, whereas the recommended surveillance for monoallelic mutation carriers varied.

Conclusion:  This is the first study to document current management practices for MUTYH-associated neoplasia and forms a basis for the development of evidence-based recommendations as further research becomes available. Current guidelines for testing and management of MUTYH-associated neoplasia are discussed.