title: ÐÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¸Ð¹ Ð°Ð½Ð°Ð»Ð¸Ð· ÑÐµÐ¼Ð¸ Ð½ÐµÑÐ¸ÑÑÐµÐ¼Ð½ÑÑ Ð·Ð»Ð¾ÐºÐ°ÑÐµÑÑÐ²ÐµÐ½Ð½ÑÑ Ð½ÐµÐ¾Ð¿Ð»Ð°Ð·Ð¸Ð¹ Ñ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐ°: ÑÐµÐ´ÐºÐ¸Ð¹ ÑÐ»ÑÑÐ°Ð¹ ÑÐ¸Ð½Ð´ÑÐ¾Ð¼Ð° ÐÐ¸Ð½ÑÐ°
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: Genetic analysis of seven non-systemic malignant neoplasias in a patient: a rare case of Lynch syndrome
Creators: name: ÐÑÐ¸Ð½ÑÐºÐ¾Ð²Ð°, ÐÐºÐ°ÑÐµÑÐ¸Ð½Ð°
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: 2021
Subjects: ÐÐ¸Ð¾Ð»Ð¾Ð³Ð¸Ñ
ÐÐ¸Ð¾ÑÐµÑ Ð½Ð¾Ð»Ð¾Ð³Ð¸Ñ
Ð¿ÐµÑÐ²Ð¸ÑÐ½Ð¾-Ð¼Ð½Ð¾Ð¶ÐµÑÑÐ²ÐµÐ½Ð½ÑÐµ Ð½ÐµÐ¾Ð¿Ð»Ð°Ð·Ð¸Ð¸
ÑÐ¸Ð½Ð´ÑÐ¾Ð¼ ÐÐ¸Ð½ÑÐ°
Ð¼ÑÑÐ°ÑÐ¸Ð¾Ð½Ð½ÑÐµ Ð¿ÑÐ¾ÑÐ¸Ð»Ð¸
ÑÐµÐºÐ²ÐµÐ½Ð¸ÑÐ¾Ð²Ð°Ð½Ð¸Ðµ Ð½Ð¾Ð²Ð¾Ð³Ð¾ Ð¿Ð¾ÐºÐ¾Ð»ÐµÐ½Ð¸Ñ
primary multiple neoplasias
Lynch syndrome
mutational profiles
new generation sequencing

description: ÐÑÐµÐ´Ð¼ÐµÑÐ¾Ð¼ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ñ ÑÐ»ÑÐ¶Ð°Ñ Ð¼ÑÑÐ°ÑÐ¸Ð¾Ð½Ð½ÑÐµ Ð¿ÑÐ¾ÑÐ¸Ð»Ð¸ ÑÐµÐ¼Ð¸ Ð·Ð»Ð¾ÐºÐ°ÑÐµÑÑÐ²ÐµÐ½Ð½ÑÑ Ð¼ÐµÑÐ°ÑÑÐ¾Ð½Ð½Ð¾-ÑÐ¸Ð½ÑÑÐ¾Ð½Ð½ÑÑ Ð½Ð¾Ð²Ð¾Ð¾Ð±ÑÐ°Ð·Ð¾Ð²Ð°Ð½Ð¸Ð¹, Ð²Ð¾Ð·Ð½Ð¸ÐºÑÐ¸Ñ Ð½Ð° Ð¿ÑÐ¾ÑÑÐ¶ÐµÐ½Ð¸Ð¸ ÑÑÐ¸Ð´ÑÐ°ÑÐ¸ Ð»ÐµÑ, Ñ Ð¾Ð´Ð½Ð¾Ð¹ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐºÐ¸. Ð¦ÐµÐ»ÑÑ Ð´Ð°Ð½Ð½Ð¾Ð¹ ÑÐ°Ð±Ð¾ÑÑ ÑÐ²Ð»ÑÐµÑÑÑ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ðµ Ð¼ÑÑÐ°ÑÐ¸Ð¾Ð½Ð½ÑÑ Ð¿ÑÐ¾ÑÐ¸Ð»ÐµÐ¹ Ð¼Ð½Ð¾Ð¶ÐµÑÑÐ²ÐµÐ½Ð½ÑÑ Ð·Ð»Ð¾ÐºÐ°ÑÐµÑÑÐ²ÐµÐ½Ð½ÑÑ Ð½ÐµÐ¾Ð¿Ð»Ð°Ð·Ð¸Ð¹ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐºÐ¸. ÐÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ðµ Ð¿ÑÐ¾Ð²Ð¾Ð´Ð¸Ð»Ð¾ÑÑ Ñ Ð¸ÑÐ¿Ð¾Ð»ÑÐ·Ð¾Ð²Ð°Ð½Ð¸ÐµÐ¼ ÑÐ°ÐºÐ¸Ñ Ð¼ÐµÑÐ¾Ð´Ð¾Ð², ÐºÐ°Ðº: ÐÐ¦Ð , Ð­Ð¤ Ð² ÐÐÐÐ, Ð­Ð¤ÐÐ£ Ð² ÐÐÐÐ, ÐÐ¦Ð -Ð Ð, ÑÐµÐºÐ²ÐµÐ½Ð¸ÑÐ¾Ð²Ð°Ð½Ð¸Ðµ Ð½Ð¾Ð²Ð¾Ð³Ð¾ Ð¿Ð¾ÐºÐ¾Ð»ÐµÐ½Ð¸Ñ (NGS) Ð¸ ÑÐµÐºÐ²ÐµÐ½Ð¸ÑÐ¾Ð²Ð°Ð½Ð¸Ðµ Ð¿Ð¾ Ð¡ÑÐ½Ð³ÐµÑÑ. Ð ÑÐµÐ·ÑÐ»ÑÑÐ°ÑÐµ Ð°Ð½Ð°Ð»Ð¸Ð·Ð° ÐÐÐ, Ð²ÑÐ´ÐµÐ»ÐµÐ½Ð½Ð¾Ð¹ Ð¸Ð· ÐºÑÐ¾Ð²Ð¸ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐºÐ¸, Ð´Ð»Ñ Ð²ÑÑÐ²Ð»ÐµÐ½Ð¸Ñ Ð³ÐµÑÐ¼Ð¸Ð½Ð°Ð»ÑÐ½ÑÑ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð±ÑÐ» Ð¾Ð±Ð½Ð°ÑÑÐ¶ÐµÐ½ ÑÐ°Ð½ÐµÐµ Ð½Ðµ Ð¾Ð¿Ð¸ÑÐ°Ð½Ð½ÑÐ¹ Ð²Ð°ÑÐ¸Ð°Ð½Ñ Ð² Ð³ÐµÑÐµÑÐ¾Ð·Ð¸Ð³Ð¾ÑÐ½Ð¾Ð¹ ÑÐ¾ÑÐ¼Ðµ Ð³ÐµÐ½Ð° MSH6. ÐÑÐ»Ð¾ Ð²ÑÑÑÐ½ÐµÐ½Ð¾, ÑÑÐ¾ Ð´Ð°Ð½Ð½Ð°Ñ Ð³ÐµÑÐ¼Ð¸Ð½Ð°Ð»ÑÐ½Ð°Ñ Ð¼ÑÑÐ°ÑÐ¸Ñ Ð¿ÑÐ¸Ð²ÐµÐ»Ð° Ðº ÑÐ°Ð·Ð²Ð¸ÑÐ¸Ñ ÑÐ¸Ð½Ð´ÑÐ¾Ð¼Ð° ÐÐ¸Ð½ÑÐ°, ÑÐ°ÑÐ°ÐºÑÐµÑÐ¸Ð·ÑÑÑÐµÐ³Ð¾ÑÑ ÑÐ°Ð·Ð²Ð¸ÑÐ¸ÐµÐ¼ ÑÐ°Ð·Ð»Ð¸ÑÐ½ÑÑ ÑÐ¸Ð¿Ð¾Ð² Ð¾Ð¿ÑÑÐ¾Ð»ÐµÐ¹, ÑÐ°ÐºÐ¸Ñ ÐºÐ°Ðº ÑÐ°Ðº ÑÐ¾Ð»ÑÑÐ¾Ð¹ ÐºÐ¸ÑÐºÐ¸, ÑÐ½Ð´Ð¾Ð¼ÐµÑÑÐ¸Ñ, Ð¼Ð¾Ð»Ð¾ÑÐ½Ð¾Ð¹ Ð¶ÐµÐ»ÐµÐ·Ñ Ð¸ Ð´ÑÑÐ³Ð¸Ñ. Ð ÑÐµÐ·ÑÐ»ÑÑÐ°ÑÐµ Ð°Ð½Ð°Ð»Ð¸Ð·Ð° ÐÐÐ, Ð²ÑÐ´ÐµÐ»ÐµÐ½Ð½Ð¾Ð¹ Ð¸Ð· Ð´Ð²ÑÑ Ð¾Ð¿ÑÑÐ¾Ð»ÐµÐ¹ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐºÐ¸, Ð´Ð»Ñ Ð²ÑÑÐ²Ð»ÐµÐ½Ð¸Ñ ÑÐ¾Ð¼Ð°ÑÐ¸ÑÐµÑÐºÐ¸Ñ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð±ÑÐ»Ð¸ Ð¾Ð±Ð½Ð°ÑÑÐ¶ÐµÐ½Ñ Ð¿Ð¾Ð²ÑÐµÐ¶Ð´ÐµÐ½Ð¸Ñ Ð³ÐµÐ½Ð¾Ð², Ð°ÑÑÐ¾ÑÐ¸Ð¸ÑÐ¾Ð²Ð°Ð½Ð½ÑÑ Ñ ÑÐ°Ð·Ð½ÑÐ¼Ð¸ Ð¼Ð¾Ð»ÐµÐºÑÐ»ÑÑÐ½Ð¾-Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¸Ð¼Ð¸ Ð¿ÑÑÑÐ¼Ð¸ ÑÐ°Ð·Ð²Ð¸ÑÐ¸Ñ Ð´Ð°Ð½Ð½ÑÑ Ð¾Ð¿ÑÑÐ¾Ð»ÐµÐ¹. Ð ÑÐµÐ·ÑÐ»ÑÑÐ°ÑÐµ Ð°Ð½Ð°Ð»Ð¸Ð·Ð° Ð¼ÑÑÐ°ÑÐ¸Ð¾Ð½Ð½ÑÑ Ð¿ÑÐ¾ÑÐ¸Ð»ÐµÐ¹ Ð¼Ð½Ð¾Ð¶ÐµÑÑÐ²ÐµÐ½Ð½ÑÑ Ð·Ð»Ð¾ÐºÐ°ÑÐµÑÑÐ²ÐµÐ½Ð½ÑÑ Ð½Ð¾Ð²Ð¾Ð¾Ð±ÑÐ°Ð·Ð¾Ð²Ð°Ð½Ð¸Ð¹ Ð¿Ð°ÑÐ¸ÐµÐ½ÑÐºÐ¸, Ð±ÑÐ»Ð¾ ÑÐ´ÐµÐ»Ð°Ð½Ð¾ Ð¿ÑÐµÐ´Ð¿Ð¾Ð»Ð¾Ð¶ÐµÐ½Ð¸Ðµ Ð¾ Ð½ÐµÐ·Ð°Ð²Ð¸ÑÐ¸Ð¼Ð¾ÑÑÐ¸ Ð¿ÑÐ¾Ð¸ÑÑÐ¾Ð¶Ð´ÐµÐ½Ð¸Ñ Ð½ÐµÐ¾Ð¿Ð»Ð°Ð·Ð¸Ð¹ Ð´ÑÑÐ³ Ð¾Ñ Ð´ÑÑÐ³Ð°.
description: The subject of the study is the mutational profiles of seven malignant metachronous-synchronous neoplasms that occurred over thirty years in one patient. The aim of this study is to study the mutational profiles of multiple malignant neoplasms of the patient. The study was conducted using such methods as: PCR, PAGE, DPAGE, PCR-RT, NGS and Sanger sequencing. As a result of the analysis of the DNA isolated from the patient's blood, a previously undescribed variant in the heterozygous form of the MSH6 gene was found to detect germinal mutations. It was found that this germinal mutation led to the development of Lynch syndrome, characterized by the development of various types of tumors, such as colon, endometrial, breast and other types. As a result of the analysis of the DNA isolated from two tumors of the patient, to identify somatic mutations, damage to the genes associated with different molecular-genetic pathways of these tumors was found. As a result of the analysis of the mutational profiles of multiple malignant neoplasms of the patient, it was assumed that the origin of neoplasms is independent of each other.