DIAGNOSTIC DIFFICULTIES IN <i>MutYH</i>-ASSOCIATED POLYPOSIS (case report)-Reference-Cited by-同舟云学术

DIAGNOSTIC DIFFICULTIES IN MutYH-ASSOCIATED POLYPOSIS (case report)

Published:2020-03-16 Issue:1 Volume:19 Page:107-116
ISSN:2686-7303
Container-title:Koloproktologia
language:
Short-container-title:Koloproktologiâ

Author:

Tsukanov A. S.¹,Pikunov D. Yu.²,Toboeva M. Kh.²,Kuzminov A. M.¹,Majnovskaya O. A.¹,Kashnikov V. N.¹,Shubin V. P.¹

Affiliation:

1. Ryzhikh National Medical Research Centre for Coloproctology of the Ministry of Health of Russia

2. Ryzhikh National Medical Research Centre for Coloproctology of the Ministry of Health of Russia; Russian Medical Academy of Continuing Professional Education of the Ministry of Healthcare of Russia

Abstract

MutYH-associated polyposis (MAP) is hereditary syndrome with autosomal recessive inheritance, caused by biallelic mutation in MutYH gene and characterized by presence of multiple (20 and more) polyps in the bowel and increased life-time risk of colorectal cancer. At the same time finding 2 heterozygous mutations in MutYH gene (by Sanger method) doesn`t mean the diagnosis of MAP because of need to confirm their biallelic location. This case-report demonstrates difficulties in diagnostic of MAP caused by inability to investigate parent DNA samples and our options for solution of this problem.

Publisher

Russian Association of Coloproctology

Subject

Materials Chemistry

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