MUTYH-associated polyposis

Author(s):

• Professor Barbara Leggett MD FRACP — Author
• Dr Nicola Poplawski — Co-author
• Dr Nicholas Pachter — Co-author
• Associate Professor Christophe Rosty, MD PhD FRCPA — Co-author
• Associate Professor Ian Norton MBBS, PhD, FRACP — Co-author
• Dr Caroline Wright — Co-author
• Dr Aung Ko Win — Co-author
• Professor Finlay Macrae AO; MBBS; MD; FRACP; FRCP; AGAF — Co-author
• Cancer Council Australia Colorectal Cancer Guidelines Working Party — Co-author

Cite this page

Leggett, B, Dr Nicola Poplawski, "[Pachter],[NP]", Rosty, C., Norton, I, Dr Caroline Wright, Dr Aung Ko Win, Macrae, F, Cancer Council Australia Colorectal Cancer Guidelines Working Party. Guidelines:Colorectal cancer/MUTYH associated polyposis . In: Clinical practice guidelines for the prevention, early detection and management of colorectal cancer. Sydney: Cancer Council Australia. [Version URL: https://wiki.cancer.org.au/australiawiki/index.php?oldid=173054, cited 2023 Oct 2]. Available from: https://wiki.cancer.org.au/australia/Guidelines:Colorectal_cancer.

Last modified:
7 November 2017 23:32:58

Background

MUTYH-associated polyposis is a recessively inherited predisposition to adenomatous colorectal polyps and early onset colorectal cancer due to biallelic mutations in the MUTYH gene. Germline MUTYH mutations predispose to developing somatic APC mutations and the KRAS Gly12Cys ‘hotspot’ mutation in the gastrointestinal tract. Affected individuals commonly have between 20 and 100 adenomas but may have > 100.

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Management

No systematic reviews on this topic were undertaken in the development of this section. The guidance on MUTH-associated polyposis is based on recent international guidelines. (See Guidelines Development for more information).

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Genetic testing

Practice point

Referral to a genetics service for germline genetic testing for mutations in MUTYH is indicated for persons with a cumulative count of ≥ 20 colorectal adenomas at any age (Syngal et al., 2015). It is also indicated for siblings of a MUTYH biallelic mutation carrier (Syngal et al., 2015). Testing may also be considered in patients with ≥ 10 adenomas and any of the following (Syngal et al., 2015) : age under 50 synchronous colorectal cancer both adenomatous and serrated polyps where the adenomatous polyps dominate family history suggestive of recessive inheritance (e.g. consanguinity in parents or siblings with documented adenomatous polyposis or colorectal cancer). Clinical practice in some familial cancer clinics would accept patients in these categories even if there are no synchronous adenomas in the proband.

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Surveillance and management

Practice point

Biallelic mutation carriers should have colonoscopy every 2 years starting at age 18 to 20 years(Cancer Institute NSW, 2016; Robays and Poppe, 2014; Balmaña et al., 2013). If polyps are detected, annual colonoscopy may be required to control the polyp burden (Cancer Institute NSW, 2016). If polyps cannot be easily managed colonoscopically, a colectomy with ileorectal anastomosis should be considered and discussed with the patient (Cancer Institute NSW, 2016; Balmaña et al., 2013) The residual rectum requires annual surveillance.

Monoallelic MUTYH mutations are present in 1 to 2% of the population and may confer, on average, a 1.5- to 2-fold increase in the risk of colorectal cancer. There is currently no consensus regarding surveillance and management, but an option may be to offer colonoscopy 5 yearly from 10 years younger than the earliest cancer diagnosis in the family.

Next section: Lynch syndrome

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References

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Referring to the large bowel, comprising the colon and rectum.

A recommendation on a subject that is outside the scope of the search strategy for the systematic review, based on expert opinion and formulated by a consensus process.