Literature DB >> 31094179

MutYH-associated polyposis.

M Kh Toboeva1,2, Yu A Shelygin1,2, S A Frolov2, M A Kuzminov2, A S Tsukanov2.   

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.

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Keywords:  MutYH-associated polyposis; biallelic mutation; colectomy; familial adenomatous polyposis; monoallelic mutation

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Year:  2019        PMID: 31094179     DOI: 10.26442/00403660.2019.02.000124

Source DB:  PubMed          Journal:  Ter Arkh        ISSN: 0040-3660            Impact factor:   0.467


  1 in total

1.  Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome.

Authors:  Mingkun Zhao; Xiaohan Lin; Yuan Fang; Aobo Zhuang; Hanxing Tong; Weiqi Lu; Yuhong Zhou; Yong Zhang
Journal:  Front Surg       Date:  2022-07-12
  1 in total

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