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MutYH-associated polyposis

M Kh Toboeva1,2, Yu A Shelygin1,2, S A Frolov2

  • 1Russian Medical Academy of Continuing Professional Education of the Ministry of Health of the Russian Federation, Moscow, Russia.

Terapevticheskii Arkhiv
|May 17, 2019
PubMed

Insights

MutYH-associated polyposis is an autosomal recessive condition requiring biallelic mutations. However, monoallelic carriers face an elevated colorectal cancer risk, necessitating early diagnosis and treatment strategies.

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • MutYH-associated polyposis (MAP) is a rare genetic disorder.
  • It presents autosomal recessive inheritance, distinct from other polyposis syndromes.
  • MAP shares phenotypic similarities with attenuated familial adenomatous polyposis.

Purpose of the Study:

  • To review diagnostic and treatment algorithms for MutYH-associated polyposis.
  • To highlight the increased colorectal cancer risk in monoallelic mutation carriers.
  • To inform clinical suspicion for MAP in specific patient demographics.

Main Methods:

  • Literature review of diagnostic criteria for MAP.
  • Analysis of genetic mutation requirements for MAP development.
  • Examination of epidemiological data on colorectal cancer risk in MAP carriers.
  • Synthesis of current treatment guidelines for MAP.

Main Results:

  • MutYH-associated polyposis requires mutations in both gene alleles for disease manifestation.
  • Individuals with monoallelic mutations show an increased risk of colorectal cancer.
  • Clinical suspicion for MAP is warranted in patients over 45 with colorectal cancer and polyps.

Conclusions:

  • Early diagnosis of MAP is crucial, especially in patients with a history of polyps and colorectal cancer.
  • Genetic counseling and testing are important for families with MAP.
  • Adherence to updated diagnostic and treatment protocols can improve patient outcomes.
Keywords:
MutYH-associated polyposisbiallelic mutationcolectomyfamilial adenomatous polyposismonoallelic mutation

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