title: ÐÑÐ¾Ð±ÐµÐ½Ð½Ð¾ÑÑÐ¸ Ð¿ÑÐ¸Ð¼ÐµÐ½ÐµÐ½Ð¸Ñ ÑÐµÑÑÐ° Ð½Ð° Ð¼Ð¸ÐºÑÐ¾ÑÐ°ÑÐµÐ»Ð»Ð¸ÑÐ½ÑÑ Ð½ÐµÑÑÐ°Ð±Ð¸Ð»ÑÐ½Ð¾ÑÑÑ Ð² ÑÑÐ»Ð¾Ð²Ð¸ÑÑ ÑÑÐ½Ð¸ÑÐµÑÐºÐ¾Ð³Ð¾ Ð¼Ð½Ð¾Ð³Ð¾Ð¾Ð±ÑÐ°Ð·Ð¸Ñ Ð³ÐµÐ½Ð¾ÑÐ¾Ð½Ð´Ð° Ð½Ð°ÑÐµÐ»ÐµÐ½Ð¸Ñ Ð Ð¾ÑÑÐ¸Ð¸ (Features of microsatellite instability testing considering ethnic diversity of the gene pool of the Russian population)
title: Ð²ÑÐ¿ÑÑÐºÐ½Ð°Ñ ÐºÐ²Ð°Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ð¾Ð½Ð½Ð°Ñ ÑÐ°Ð±Ð¾ÑÐ° Ð¼Ð°Ð³Ð¸ÑÑÑÐ°
titleType: Subtitle
title: Features of microsatellite instability testing considering ethnic diversity of the gene pool of the Russian population
Creators: name: ÐÑÐ±Ð½Ð¾Ð², ÐÐ¸ÑÐ°Ð¸Ð»
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: 2024
Subjects: Ð¼Ð¸ÐºÑÐ¾ÑÐ°ÑÐµÐ»Ð»Ð¸ÑÐ½Ð°Ñ Ð½ÐµÑÑÐ°Ð±Ð¸Ð»ÑÐ½Ð¾ÑÑÑ
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Ð¸Ð¼Ð¼ÑÐ½Ð¾Ð³Ð¸ÑÑÐ¾Ñ Ð¸Ð¼Ð¸ÑÐµÑÐºÐ¾Ðµ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ðµ
microsatellite instability
colorectal cancer
endometrioid cancer
mismatch repair deficiency
polymerase chain reaction
capillary electrophoresis
immunohistochemistry

description: Ð¢ÐµÑÑÐ¸ÑÐ¾Ð²Ð°Ð½Ð¸Ðµ Ð½Ð° Ð¼Ð¸ÐºÑÐ¾ÑÐ°ÑÐµÐ»Ð»Ð¸ÑÐ½ÑÑ Ð½ÐµÑÑÐ°Ð±Ð¸Ð»ÑÐ½Ð¾ÑÑÑ (MSI) Ð²ÑÐ¿Ð¾Ð»Ð½ÑÐµÑÑÑ Ð²ÑÐµÐ¼ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ°Ð¼ Ñ ÐºÐ¾Ð»Ð¾ÑÐµÐºÑÐ°Ð»ÑÐ½ÑÐ¼ Ð¸ ÑÐ½Ð´Ð¾Ð¼ÐµÑÑÐ¸Ð°Ð»ÑÐ½ÑÐ¼ ÑÐ°ÐºÐ¾Ð¼ ÑÐ¾Ð³Ð»Ð°ÑÐ½Ð¾ ÐºÐ»Ð¸Ð½Ð¸ÑÐµÑÐºÐ¸Ð¼ ÑÐµÐºÐ¾Ð¼ÐµÐ½Ð´Ð°ÑÐ¸ÑÐ¼ ÐÐ¸Ð½Ð·Ð´ÑÐ°Ð²Ð° Ð Ð¤ Ð¸ NCCN (ÐÐ°ÑÐ¸Ð¾Ð½Ð°Ð»ÑÐ½Ð¾Ð¹ Ð¾Ð½ÐºÐ¾Ð»Ð¾Ð³Ð¸ÑÐµÑÐºÐ¾Ð¹ ÑÐµÑÐ¸ Ð¡Ð¨Ð). Ð¡ÑÐ°Ð½Ð´Ð°ÑÑÐ½ÑÐ¹ Ð¿Ð¾Ð´ÑÐ¾Ð´ Ðº ÑÐµÑÑÐ¸ÑÐ¾Ð²Ð°Ð½Ð¸Ñ Ð¾Ð¿ÑÑÐ¾Ð»ÐµÐ¹ Ð½Ð° Ð´Ð°Ð½Ð½Ð¾Ðµ Ð¼Ð¾Ð»ÐµÐºÑÐ»ÑÑÐ½Ð¾Ðµ Ð½Ð°ÑÑÑÐµÐ½Ð¸Ðµ Ð¿ÑÐµÐ´ÑÑÐ°Ð²Ð»ÑÐµÑ ÑÐ¾Ð±Ð¾Ð¹ ÐÐ¦Ð  Ñ Ð¿Ð¾ÑÐ»ÐµÐ´ÑÑÑÐ¸Ð¼ ÐºÐ°Ð¿Ð¸Ð»Ð»ÑÑÐ½ÑÐ¼ ÑÐ»ÐµÐºÑÑÐ¾ÑÐ¾ÑÐµÐ·Ð¾Ð¼. Ð¢ÐµÑÑ Ð²ÐºÐ»ÑÑÐ°ÐµÑ Ð¿ÑÑÑ Ð¼Ð°ÑÐºÐµÑÐ¾Ð² (BAT26, BAT25, NR21, NR24, NR22 Ð¸Ð»Ð¸ NR27). Ð¦ÐµÐ»ÑÑ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ñ ÑÐ²Ð»ÑÐ»Ð¾ÑÑ Ð¾Ð¿ÑÐµÐ´ÐµÐ»Ð¸ÑÑ Ð² Ð´Ð°Ð½Ð½ÑÑ Ð¼Ð°ÑÐºÐµÑÐ°Ñ ÐºÐ²Ð°Ð·Ð¸Ð¼Ð¾Ð½Ð¾Ð¼Ð¾ÑÑÐ½ÑÐ¹ Ð´Ð¸Ð°Ð¿Ð°Ð·Ð¾Ð½ Ð²Ð°ÑÐ¸Ð°Ð½ÑÐ¾Ð² ÑÑÐµÐ´Ð¸ Ð½Ð°ÑÐµÐ»ÐµÐ½Ð¸Ñ Ð Ð¾ÑÑÐ¸Ð¸ Ð¸ Ð¾Ð¿Ð¸ÑÐ°ÑÑ Ð¾Ð±Ð½Ð°ÑÑÐ¶ÐµÐ½Ð½ÑÐµ Ð¿Ð¾Ð»Ð¸Ð¼Ð¾ÑÑÐ½ÑÐµ Ð²Ð°ÑÐ¸Ð°Ð½ÑÑ, ÑÑÐ¾Ð±Ñ Ð¾ÑÐµÐ½Ð¸ÑÑ Ð²Ð¾Ð·Ð¼Ð¾Ð¶Ð½Ð¾ÑÑÑ Ð²ÑÐ¿Ð¾Ð»Ð½ÐµÐ½Ð¸Ñ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ñ Ð½Ð° MSI Ð² ÐÐÐ Ð¾Ð¿ÑÑÐ¾Ð»Ð¸ Ð±ÐµÐ· ÐÐÐ Ð·Ð´Ð¾ÑÐ¾Ð²Ð¾Ð¹ ÑÐºÐ°Ð½Ð¸ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ°. ÐÐµÑÐ¾Ð´Ñ: Ð² ÑÐ°Ð±Ð¾ÑÐµ Ð±ÑÐ»Ð¸ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ñ Ð´Ð°Ð½Ð½ÑÐµ ÑÐµÑÑÑ Ð¼Ð°ÑÐºÐµÑÐ¾Ð² Ð² 700 Ð¾Ð±ÑÐ°Ð·ÑÐ°Ñ ÐÐÐ ÐºÑÐ¾Ð²Ð¸ Ð¿ÑÐµÐ´ÑÑÐ°Ð²Ð¸ÑÐµÐ»ÐµÐ¹ ÑÐµÐ¼Ð¸ ÑÑÐ½Ð¸ÑÐµÑÐºÐ¸Ñ Ð³ÑÑÐ¿Ð¿ (ÑÐ»Ð°Ð²ÑÐ½Ðµ, ÑÐ°ÑÐ°ÑÑ, ÑÐµÑÐµÐ½ÑÑ, Ð°Ð²Ð°ÑÑÑ, ÐºÐ°Ð±Ð°ÑÐ´Ð¸Ð½ÑÑ, Ð¸Ð½Ð³ÑÑÐ¸, ÑÐºÑÑÑ). Ð ÐµÐ·ÑÐ»ÑÑÐ°ÑÑ: Ð² Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ð¸ Ð¿ÑÐµÐ´ÑÑÐ°Ð²Ð»ÐµÐ½ ÑÐºÐ¾ÑÑÐµÐºÑÐ¸ÑÐ¾Ð²Ð°Ð½Ð½ÑÐ¹ QMVR. Ð 627 Ð¾Ð±ÑÐ°Ð·ÑÐ°Ñ Ð²ÑÐµ Ð¼Ð°ÑÐºÐµÑÑ Ð¿ÑÐ¾Ð´ÐµÐ¼Ð¾Ð½ÑÑÑÐ¸ÑÐ¾Ð²Ð°Ð»Ð¸ Ð²Ð°ÑÐ¸Ð°Ð½ÑÑ Ð¾ÑÐ½Ð¾ÑÑÑÐ¸ÐµÑÑ Ðº QMVR, Ð¾ÑÑÐ°Ð»ÑÐ½ÑÐµ 73 Ð¾Ð±ÑÐ°Ð·ÑÐ° Ð¿ÑÐ¾Ð´ÐµÐ¼Ð¾Ð½ÑÑÑÐ¸ÑÐ¾Ð²Ð°Ð»Ð¸ Ð¿Ð¾Ð»Ð¸Ð¼Ð¾ÑÑÐ½ÑÐµ Ð²Ð°ÑÐ¸Ð°Ð½ÑÑ Ð»Ð¸ÑÑ Ð¿Ð¾ Ð¾Ð´Ð½Ð¾Ð¼Ñ Ð¸Ð· Ð¼Ð°ÑÐºÐµÑÐ¾Ð². Ð¢Ð°ÐºÐ¸Ð¼ Ð¾Ð±ÑÐ°Ð·Ð¾Ð¼, Ð¾Ð±ÑÐ°Ð·ÑÑ Ñ Ð½ÐµÑÑÐ°Ð±Ð¸Ð»ÑÐ½Ð¾ÑÑÑÑ Ð² Ð´Ð²ÑÑ Ð¸ Ð±Ð¾Ð»ÐµÐµ Ð¼Ð°ÑÐºÐµÑÐ°Ñ Ð±ÑÐ´ÑÑ ÑÐ¾ÑÐ½Ð¾ ÐºÐ»Ð°ÑÑÐ¸ÑÐ¸ÑÐ¸ÑÐ¾Ð²Ð°Ð½Ñ ÐºÐ°Ðº MSI Ð¿Ð¾Ð·Ð¸ÑÐ¸Ð²Ð½ÑÐµ. ÐÑÐ²Ð¾Ð´Ñ: Ð¿ÑÐ¾Ð´ÐµÐ¼Ð¾Ð½ÑÑÑÐ¸ÑÐ¾Ð²Ð°Ð½Ð¾, ÑÑÐ¾ ÑÐµÑÑÐ¸ÑÐ¾Ð²Ð°Ð½Ð¸Ðµ Ð½Ð° MSI Ð¼Ð¾Ð¶Ð½Ð¾ Ð²ÑÐ¿Ð¾Ð»Ð½ÑÑÑ Ð±ÐµÐ· ÑÑÐ°Ð²Ð½ÐµÐ½Ð¸Ñ ÑÐµÐ·ÑÐ»ÑÑÐ°ÑÐ¾Ð² Ð¾Ð¿ÑÑÐ¾Ð»Ð¸ Ð¸ Ð½Ð¾ÑÐ¼Ð°Ð»ÑÐ½Ð¾Ð¹ ÑÐºÐ°Ð½Ð¸.
description: Testing for microsatellite instability (MSI) is performed for all patients with colorectal and endometrial cancer according to the clinical recommendations of the Ministry of Health of the Russian Federation and NCCN (National Comprehensive Cancer Network). The standard approach to testing tumors for this molecular abnormality is a PCR followed by capillary electrophoresis. The test includes five mononucleotide markers (BAT26, BAT25, NR21, NR24, NR22 or NR27). Herein, the aim of the study was to establish the quasimonomorphic variation range (QMVR) in a Russian population and describe the detected polymorphic variants, to evaluate the feasibility of MSI determination of tumors, without the matching normal DNA. Methods: in this study, we analyzed the six mononucleotide markers (BAT26, BAT25, NR21, NR24, NR22, NR27) in germline DNA from 700 individuals encompassing 7 different ethnic groups (Slavs, Tatars, Chechens, Avars, Kabardians, Ingush, Yakuts). Results: the study presents adjusted QMVR. In 627 samples all markers showed variants related to QMVR, the remaining 73 samples showed polymorphic variants in only one of the markers. Thus, individuals with instability at â¥ 2 (out of 5) markers would be accurately classified as MSI. Conclusions: We demonstrated that MSI testing can be performed without comparing tumor and normal DNA.