title: ÐÐ½Ð°Ð»Ð¸Ð· ÑÐ°ÑÑÐ¾ÑÑ Ð¸ ÑÐ¿ÐµÐºÑÑÐ° Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð² Ð³ÐµÐ½Ðµ MUTYH Ð¿ÑÐ¸ ÐºÐ¾Ð»Ð¾ÑÐµÐºÑÐ°Ð»ÑÐ½Ð¾Ð¼ ÑÐ°ÐºÐµ
title: Ð²ÑÐ¿ÑÑÐºÐ½Ð°Ñ ÐºÐ²Ð°Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ð¾Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð±Ð°ÐºÐ°Ð»Ð°Ð²ÑÐ°
titleType: Subtitle
title: Analysis of the frequency and spectrum of mutations in the MUTYH gene in colorectal cancer
Creators: name: ÐÐ¸Ð¿ÐµÐ½Ð´Ð¸Ð½Ð°, ÐÑÐµÐ½Ð¸Ñ
Publisher: name: Ð¡Ð°Ð½ÐºÑ-ÐÐµÑÐµÑÐ±ÑÑÐ³ÑÐºÐ¸Ð¹ Ð¿Ð¾Ð»Ð¸ÑÐµÑÐ½Ð¸ÑÐµÑÐºÐ¸Ð¹ ÑÐ½Ð¸Ð²ÐµÑÑÐ¸ÑÐµÑ ÐÐµÑÑÐ° ÐÐµÐ»Ð¸ÐºÐ¾Ð³Ð¾
Year: 2023
Subjects: MUTYH â Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½Ð½ÑÐ¹ Ð¿Ð¾Ð»Ð¸Ð¿Ð¾Ð·
ÐºÐ¾Ð»Ð¾ÑÐµÐºÑÐ°Ð»ÑÐ½ÑÐ¹ ÑÐ°Ðº
MAP
MUTYH
FAP
Ð¿Ð¾Ð»Ð¸Ð¼ÐµÑÐ°Ð·Ð½Ð°Ñ ÑÐµÐ¿Ð½Ð°Ñ ÑÐµÐ°ÐºÑÐ¸Ñ
ÑÐ°Ðº ÑÐ¾Ð»ÑÑÐ¾Ð¹ ÐºÐ¸ÑÐºÐ¸
MUTYH - associated polyposis
colorectal cancer
polymerase chain reaction

description: MUTYH-Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½Ð½ÑÐ¹ Ð¿Ð¾Ð»Ð¸Ð¿Ð¾Ð· ÑÐ²Ð»ÑÐµÑÑÑ ÑÐµÐ´ÐºÐ¸Ð¼ Ð¿Ð¾Ð»Ð¸Ð¿Ð¾Ð·Ð½ÑÐ¼ ÑÐ¸Ð½Ð´ÑÐ¾Ð¼Ð¾Ð¼ Ñ Ð°ÑÑÐ¾ÑÐ¾Ð¼Ð½Ð¾-ÑÐµÑÐµÑÑÐ¸Ð²Ð½ÑÐ¼ ÑÐ¸Ð¿Ð¾Ð¼ Ð½Ð°ÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ñ, Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ðµ ÐºÐ¾ÑÐ¾ÑÐ¾Ð³Ð¾ Ð·Ð°ÑÑÑÐ´Ð½ÐµÐ½Ð¾ Ð½ÐµÑÑÐºÐ¾Ð¹ ÐºÐ»Ð¸Ð½Ð¸ÑÐµÑÐºÐ¾Ð¹ ÐºÐ°ÑÑÐ¸Ð½Ð¾Ð¹. Ð¦ÐµÐ»Ñ ÑÐ°Ð±Ð¾ÑÑ â Ð°Ð½Ð°Ð»Ð¸Ð· ÑÐ°ÑÑÐ¾ÑÑ Ð¸ ÑÐ¿ÐµÐºÑÑÐ° Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð² Ð³ÐµÐ½Ðµ MUTYH Ð² Ð¿Ð¾Ð¿ÑÐ»ÑÑÐ¸Ð¸ ÑÐ¾ÑÑÐ¸Ð¹ÑÐºÐ¸Ñ Ð±Ð¾Ð»ÑÐ½ÑÑ Ð¼ÐµÑÐ°ÑÑÐ°ÑÐ¸ÑÐµÑÐºÐ¸Ð¼ Ð Ð¢Ð, Ð° ÑÐ°ÐºÐ¶Ðµ Ð²ÑÑÑÐµÑÐ°ÐµÐ¼Ð¾ÑÑÐ¸ MAP Ð² Ð²ÑÐ±Ð¾ÑÐºÐµ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ Ð´Ð¸Ð°Ð³Ð½Ð¾Ð·Ð¾Ð¼ Â«ÑÐ°Ðº ÑÐ¾Ð»ÑÑÐ¾Ð¹ ÐºÐ¸ÑÐºÐ¸Â» Ñ ÑÑÐµÑÐ¾Ð¼ Ð´Ð¾Ð¿Ð¾Ð»Ð½Ð¸ÑÐµÐ»ÑÐ½ÑÑ Ð¼Ð°ÑÐºÐµÑÐ¾Ð² - KRAS c.34G&gt;T (p.G12C) â Ð¿Ð¾Ð»Ð¾Ð¶Ð¸ÑÐµÐ»ÑÐ½ÑÑ ÑÐ»ÑÑÐ°ÐµÐ² Ð Ð¢Ð. Ð ÑÐ°Ð±Ð¾ÑÐµ Ð±ÑÐ»Ð¾ Ð¿ÑÐ¾Ð²ÐµÐ´ÐµÐ½Ð¾ Ð³ÐµÐ½Ð¾ÑÐ¸Ð¿Ð¸ÑÐ¾Ð²Ð°Ð½Ð¸Ðµ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ¾Ð² Ñ Ð´Ð¸Ð°Ð³Ð½Ð¾Ð·Ð¾Ð¼ ÑÐ°Ðº ÑÐ¾Ð»ÑÑÐ¾Ð¹ ÐºÐ¸ÑÐºÐ¸ Ñ ÑÑÐµÑÐ¾Ð¼ Ð´Ð¾Ð¿Ð¾Ð»Ð½Ð¸ÑÐµÐ»ÑÐ½Ð¾Ð³Ð¾ Ð¼Ð°ÑÐºÐµÑÐ° KRAS c.34G&gt;T (p.G12C) Ð¼ÐµÑÐ¾Ð´Ð°Ð¼Ð¸ ÐÐ¦Ð -Ð Ð Ð¸ ÑÐµÐºÐ²ÐµÐ½Ð¸ÑÐ¾Ð²Ð°Ð½Ð¸ÐµÐ¼ Ð¿Ð¾ Ð¡ÑÐ½Ð³ÐµÑÑ. ÐÑÐ» Ð½Ð°Ð¹Ð´ÐµÐ½ Ð½Ð¾Ð²ÑÐ¹ Ð¿Ð°ÑÐ¾Ð³ÐµÐ½Ð½ÑÐ¹ Ð²Ð°ÑÐ¸Ð°Ð½Ñ Ð¼ÑÑÐ°ÑÐ¸Ð¸ Ð² Ð³ÐµÐ½Ðµ MUTYH - c.55G&gt;A (p.R19Ð¥). Ð¢Ð°ÐºÐ¶Ðµ Ð±ÑÐ»Ð° ÑÐ°Ð·ÑÐ°Ð±Ð¾ÑÐ°Ð½Ð° ÑÐµÑÑ ÑÐ¸ÑÑÐµÐ¼Ð° Ð´Ð»Ñ Ð²ÑÑÐ²Ð»ÐµÐ½Ð¸Ñ ÑÐµÑÑÑÐµÑ Ð½Ð°Ð¸Ð±Ð¾Ð»ÐµÐµ ÑÐ°ÑÑÑÑ Ð² ÑÐ¾ÑÑÐ¸Ð¹ÑÐºÐ¾Ð¹ Ð¿Ð¾Ð¿ÑÐ»ÑÑÐ¸Ð¸ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð¿ÑÐ¸ MUTYH-Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½Ð½Ð¾Ð¼ Ð¿Ð¾Ð»Ð¸Ð¿Ð¾Ð·Ðµ. ÐÑÐ»Ð¸ Ð¿ÑÐ¾Ð°Ð½Ð°Ð»Ð¸Ð·Ð¸ÑÐ¾Ð²Ð°Ð½Ñ 440 Ð¾Ð±ÑÐ°Ð·ÑÐ¾Ð², Ð³Ð´Ðµ ÑÐ°ÑÑÐ¾ÑÐ° Ð°Ð»Ð»ÐµÐ»ÑÐ½ÑÑ Ð¼ÑÑÐ°ÑÐ¸Ð¹ ÑÐ¾ÑÑÐ°Ð²Ð¸Ð»Ð° 4,6%.
description: MUTYH-associated polyposis is a rare polyposis syndrome with autosomal recessive type of inheritance whose study is complicated by vague clinical picture. The purpose of this work was to analyze the frequency and spectrum of mutations in the MUTYH gene in a population of Russian patients with metastatic colorectal cancer as well as the incidence of MAP in a sample of patients diagnosed with colorectal cancer, taking into account additional markers, KRAS c.34G&gt;T (p.G12C) positive CRC cases. In this work, genotyping of patients diagnosed with colorectal cancer taking into account the additional marker KRAS c.34G&gt;T (p.G12C) was carried out by PCR-RT and Sanger sequencing methods. A new pathogenic mutation variant in the MUTYH gene, c.55G&gt;A (p.R19X), was found. A test system was also developed to detect the four most frequent mutations in MUTYH-associated polyposis in the Russian population. 440 samples were analysed, where the frequency of allelic mutations was 4.6%.