MutYH-associated polyposis


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Abstract

MutYH-associated polyposis is the only polyposis syndrome with an autosomal recessive type of inheritance, often phenotypically similar to a weakened form of familial adenomatous polyposis. For the development of the disease mutations in both alleles of the gene are required, but an increased risk of developing colorectal cancer in carriers of monoallelic mutations is noted. The diagnosis of MutYH-associated polyposis should be suspected in a patient with colorectal cancer over 45 years old on the background of polyps in the colon. The review presents modern algorithms for diagnostic and treatment of the disease.

About the authors

M Kh Toboeva

Russian Medical Academy of Continuing Professional Education of the Ministry of Health of the Russian Federation; A.N. Ryzhikh State Scientific Centre of Coloproctology of the Ministry of Health of the Russian Federation

Email: rita.toboeva@mail.ru
врач-ординатор каф. колопроктологии ФГБОУ ДПО РМАНПО Moscow, Russia

Yu A Shelygin

Russian Medical Academy of Continuing Professional Education of the Ministry of Health of the Russian Federation; A.N. Ryzhikh State Scientific Centre of Coloproctology of the Ministry of Health of the Russian Federation

д.м.н., проф., член-корр. РАН, директор ФГБУ «ГНЦК им. А.Н. Рыжих», зав. каф. колопроктологии ФГБОУ ДПО РМАНПО Moscow, Russia

S A Frolov

A.N. Ryzhikh State Scientific Centre of Coloproctology of the Ministry of Health of the Russian Federation

д.м.н., зам. директора ГНЦ колопроктологии по научной работе ФГБУ «ГНЦК им. А.Н. Рыжих» Moscow, Russia

M A Kuzminov

A.N. Ryzhikh State Scientific Centre of Coloproctology of the Ministry of Health of the Russian Federation

д.м.н., проф., руководитель отд. общей колопроктологии с группой изучения семейного аденоматоза толстой кишки ФГБУ «ГНЦК им. А.Н. Рыжих» Moscow, Russia

A S Tsukanov

A.N. Ryzhikh State Scientific Centre of Coloproctology of the Ministry of Health of the Russian Federation

д.м.н., зав. кабинетом лабораторной генетики ФГБУ «ГНЦК им. А.Н. Рыжих» Moscow, Russia

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