title: Ð Ð°Ð·ÑÐ°Ð±Ð¾ÑÐºÐ° ÑÐµÑÑ ÑÐ¸ÑÑÐµÐ¼ Ð´Ð»Ñ Ð²ÑÑÐ²Ð»ÐµÐ½Ð¸Ñ Ð¼ÑÑÐ°ÑÐ¸Ð¹ Ð² Ð³ÐµÐ½Ð°Ñ BRCA1/2 Ð½Ð° Ð¾ÑÐ½Ð¾Ð²Ðµ ÐÐ¦Ð Ð² ÑÐµÐ°Ð»ÑÐ½Ð¾Ð¼ Ð²ÑÐµÐ¼ÐµÐ½Ð¸
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: Development of test systems for the detection of mutations in the BRCA1/2 genes based on real-time PCR"
Creators: name: ÐÐ°ÑÑÑÐ½ÐµÐ½ÐºÐ¾, ÐÐ°ÑÑ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: 2022
Subjects: Ð´ÐµÑÐµÐºÑÐ¸Ñ Ð¼ÑÑÐ°ÑÐ¸Ð¹
brcaness
Ð¿ÑÑ Ð² ÑÐµÐ°Ð»ÑÐ½Ð¾Ð¼ Ð²ÑÐµÐ¼ÐµÐ½Ð¸
Ð¼ÑÑÐ°ÑÐ¸Ð¸ Ð² Ð³ÐµÐ½Ð°Ñ brca1/2
Ð¿Ð¾Ð´Ð±Ð¾Ñ Ð¾Ð»Ð¸Ð³Ð¾Ð½ÐºÑÐ»ÐµÐ¾ÑÐ¸Ð´Ð¾Ð²
Ð¼ÐµÑÐ¾Ð´ Ð°Ð»Ð»ÐµÐ»ÑÐ½Ð¾Ð¹ Ð´Ð¸ÑÐºÑÐ¸Ð¼Ð¸Ð½Ð°ÑÐ¸Ð¸
Ð°Ð¼Ð¿Ð»Ð¸ÑÐ¸ÐºÐ°ÑÐ¸Ñ Ð³ÐµÐ½Ð¾Ð² brca1/2
mutation detection
real-time pcr
mutations in brca1/2 genes
selection of oligonculeotides
allelic discrimination method
amplification of brca1/2 genes

description: Ð Ð°Ðº Ð¼Ð¾Ð»Ð¾ÑÐ½Ð¾Ð¸Ì Ð¶ÐµÐ»ÐµÐ·Ñ ÑÐµÐ³Ð¾Ð´Ð½Ñ ÑÐ²Ð»ÑÐµÑÑÑ Ð¾Ð´Ð½Ð¸Ð¼ Ð¸Ð· ÑÐ°Ð¼ÑÑ ÑÐ°ÑÐ¿ÑÐ¾ÑÑÑÐ°Ð½ÐµÐ½Ð½ÑÑ Ð¾Ð½ÐºÐ¾Ð»Ð¾Ð³Ð¸ÑÐµÑÐºÐ¸Ñ Ð·Ð°Ð±Ð¾Ð»ÐµÐ²Ð°Ð½Ð¸Ð¸Ì Ð¸ Ð·Ð°Ð½Ð¸Ð¼Ð°ÐµÑ Ð¿ÐµÑÐ²Ð¾Ðµ Ð¼ÐµÑÑÐ¾ ÑÑÐµÐ´Ð¸ Ð¶ÐµÐ½ÑÐºÐ¾Ð³Ð¾ Ð½Ð°ÑÐµÐ»ÐµÐ½Ð¸Ñ Ð² Ð±Ð¾Ð»ÑÑÐ¸Ð½ÑÑÐ²Ðµ ÑÐºÐ¾Ð½Ð¾Ð¼Ð¸ÑÐµÑÐºÐ¸ ÑÐ°Ð·Ð²Ð¸ÑÑÑ ÑÑÑÐ°Ð½. ÐÐºÐ¾Ð»Ð¾ 30% ÑÐ»ÑÑÐ°ÐµÐ² Ð½Ð°ÑÐ»ÐµÐ´ÑÑÐ²ÐµÐ½Ð½Ð¾Ð³Ð¾ ÑÐ°ÐºÐ° Ð¼Ð¾Ð»Ð¾ÑÐ½Ð¾Ð¸Ì Ð¶ÐµÐ»ÐµÐ·Ñ Ð²ÑÐ·Ð²Ð°Ð½Ñ Ð¼ÑÑÐ°ÑÐ¸ÑÐ¼Ð¸ Ð² Ð³ÐµÐ½Ð°Ñ BRCA1 Ð¸ BRCA2. ÐÑÑÑÑÑÑÐ²Ð¸Ðµ Ð² Ð Ð¾ÑÑÐ¸Ð¸ Ð°Ð»Ð³Ð¾ÑÐ¸ÑÐ¼Ð° Ð¼Ð¾Ð»ÐµÐºÑÐ»ÑÑÐ½Ð¾-Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¾Ð³Ð¾ ÑÐµÑÑÐ¸ÑÐ¾Ð²Ð°Ð½Ð¸Ñ, Ð½Ðµ Ð¿Ð¾Ð·Ð²Ð¾Ð»ÑÐµÑ Ð² Ð¿Ð¾Ð»Ð½Ð¾Ð¸Ì Ð¼ÐµÑÐµ ÑÐµÐ°Ð»Ð¸Ð·Ð¾Ð²Ð°ÑÑ Ð½ÐµÐ¾Ð±ÑÐ¾Ð´Ð¸Ð¼ÑÐµ Ð»ÐµÑÐµÐ±Ð½ÑÐµ Ð¼ÐµÑÐ¾Ð¿ÑÐ¸ÑÑÐ¸Ñ. ÐÐ¾ÑÑÐ¾Ð¼Ñ ÑÐµÐ»ÑÑ Ð´Ð°Ð½Ð½Ð¾Ð¸Ì ÑÐ°Ð±Ð¾ÑÑ ÑÐ²Ð»ÑÐµÑÑÑ ÑÐ°Ð·ÑÐ°Ð±Ð¾ÑÐºÐ° Ð½Ð¾Ð²Ð¾Ð³Ð¾ Ð¼Ð¾Ð»ÐµÐºÑÐ»ÑÑÐ½Ð¾-Ð³ÐµÐ½ÐµÑÐ¸ÑÐµÑÐºÐ¾Ð³Ð¾ ÑÐµÑÑÐ° Ð½Ð° Ð¾ÑÐ½Ð¾Ð²Ðµ Ð¼ÐµÑÐ¾Ð´Ð° Ð°Ð»Ð»ÐµÐ»ÑÐ½Ð¾Ð¸Ì Ð´Ð¸ÑÐºÑÐ¸Ð¼Ð¸Ð½Ð°ÑÐ¸Ð¸, ÐºÐ¾ÑÐ¾ÑÑÐ¸Ì Ð¿Ð¾Ð·Ð²Ð¾Ð»Ð¸Ð» Ð±Ñ ÑÑÑÐµÐºÑÐ¸Ð²Ð½Ð¾ Ð²ÑÑÐ²Ð»ÑÑÑ Ð½Ð°ÑÐ»ÐµÐ´ÑÑÐ²ÐµÐ½Ð½ÑÐµ Ð¼ÑÑÐ°ÑÐ¸Ð¸ Ð² Ð³ÐµÐ½Ð°Ñ BRCA1 Ð¸ BRCA2. Ð ÑÐ¾Ð´Ðµ ÑÐ°Ð±Ð¾ÑÑ Ð±ÑÐ»Ð¾ Ð¿ÑÐ¾Ð°Ð½Ð°Ð»Ð¸Ð·Ð¸ÑÐ¾Ð²Ð°Ð½Ð¾ 93 Ð¾Ð±ÑÐ°Ð·ÑÐ° ÐÐÐ Ð¾Ð¿ÑÑÐ¾Ð»ÐµÐ¸Ì ÑÐ°ÐºÐ° Ð¼Ð¾Ð»Ð¾ÑÐ½Ð¾Ð¸Ì Ð¶ÐµÐ»ÐµÐ·Ñ Ñ Ð¿Ð¾Ð¼Ð¾ÑÑÑ Ð¼ÐµÑÐ¾Ð´Ð° Ð°Ð»Ð»ÐµÐ»ÑÐ½Ð¾Ð¸Ì Ð´Ð¸ÑÐºÑÐ¸Ð¼Ð½Ð°ÑÐ¸Ð¸. ÐÐ»Ñ ÑÑÐ¾ Ð±ÑÐ»Ð¸ Ð¿Ð¾Ð´Ð¾Ð±ÑÐ°Ð½Ñ Ð½ÐµÐ¾Ð±ÑÐ¾Ð´Ð¸Ð¼ÑÐµ Ð¾Ð»Ð¸Ð³Ð¾Ð½ÑÐºÐ»ÐµÐ¾ÑÐ¸Ð´Ñ, Ð° ÑÐ¾ÑÑÐ°Ð²Ð»ÐµÐ½Ð½Ð°Ñ ÑÐµÑÑ-Ð¿Ð°Ð½ÐµÐ»Ñ Ð¿ÑÐ¾ÑÐ»Ð° Ð°Ð¿ÑÐ¾Ð±Ð°ÑÐ¸Ñ Ð¸ Ð¾Ð¿ÑÐ¸Ð¼Ð¸Ð·Ð°ÑÐ¸Ñ. Ð­ÐºÑÐ¿ÐµÑÐ¸Ð¼ÐµÐ½ÑÐ°Ð»ÑÐ½ÑÐµ Ð´Ð°Ð½Ð½ÑÐµ Ð¿Ð¾ÐºÐ°Ð·Ð°Ð»Ð¸, ÑÑÐ¾ Ð´Ð°Ð½Ð½ÑÐ¸Ì Ð¼ÐµÑÐ¾Ð´ Ð¿Ð¾Ð·Ð²Ð¾Ð»ÑÐµÑ Ð²ÐµÑÐ½Ð¾ Ð¸Ð´ÐµÐ½ÑÐ¸ÑÐ¸ÑÐ¸ÑÐ¾Ð²Ð°ÑÑ Ð¼ÑÑÐ°ÑÐ¸Ð¸ Ð¸ Ð½Ðµ ÑÑÐµÐ±ÑÐµÑ Ð´Ð¾Ð¿Ð¾Ð»Ð½Ð¸ÑÐµÐ»ÑÐ½Ð¾Ð³Ð¾ ÑÐµÐºÐ²ÐµÐ½Ð¸ÑÐ¾Ð²Ð°Ð½Ð¸Ñ, ÑÑÐ¾ Ð·Ð½Ð°ÑÐ¸ÑÐµÐ»ÑÐ½Ð¾ ÑÐ½Ð¸Ð¶Ð°ÐµÑ ÑÑÐ¾Ð¸Ð¼Ð¾ÑÑÑ Ð¸ÑÑÐ»ÐµÐ´Ð¾Ð²Ð°Ð½Ð¸Ñ, Ð° ÑÐ°ÐºÐ¶Ðµ Ð´ÐµÐ»Ð°ÐµÑ ÐµÐ³Ð¾ Ð±Ð¾Ð»ÐµÐµ Ð´Ð¾ÑÑÑÐ¿Ð½ÑÐ¼ Ð¸ Ð±ÑÑÑÑÑÐ¼. ÐÐ¾ÑÐºÐ¾Ð»ÑÐºÑ ÑÐµÐ°ÐºÑÐ¸Ñ Ð¿ÑÐ¾Ð¸ÑÑÐ¾Ð´Ð¸Ñ Ð² Ð¾Ð´Ð½Ð¾Ð¸Ì Ð»ÑÐ½ÐºÐµ/Ð¿ÑÐ¾Ð±Ð¸ÑÐºÐµ, ÑÑÐ¾ Ð·Ð½Ð°ÑÐ¸ÑÐµÐ»ÑÐ½Ð¾ ÑÑÐºÐ¾ÑÑÐµÑ Ð¸ Ð¾Ð¿ÑÐ¸Ð¼Ð¸Ð·Ð¸ÑÑÐµÑ ÑÐ°Ð±Ð¾ÑÑ, Ð° ÑÐ°ÐºÐ¶Ðµ Ð¿Ð¾Ð·Ð²Ð¾Ð»ÑÐµÑ Ð¸Ð·Ð±ÐµÐ¶Ð°ÑÑ ÑÐ¸ÑÐºÐ° Ð¿ÐµÑÐµÐºÑÐµÑÑÐ½Ð¾Ð¸Ì ÐºÐ¾Ð½ÑÐ°Ð¼Ð¸Ð½Ð°ÑÐ¸Ð¸. Ð ÐºÐ°Ðº ÑÐ»ÐµÐ´ÑÑÐ²Ð¸Ðµ, Ð´Ð°Ð½Ð½ÑÐ¸Ì Ð¼ÐµÑÐ¾Ð´ Ð² Ð±ÑÐ´ÑÑÐµÐ¼ Ð¿Ð¾Ð·Ð²Ð¾Ð»Ð¸Ñ Ð¾Ð¿ÐµÑÐ°ÑÐ¸Ð²Ð½Ð¾ Ð¿ÑÐ¸Ð½Ð¸Ð¼Ð°ÑÑ ÑÐµÑÐµÐ½Ð¸Ðµ Ð¾ Ð½Ð°Ð·Ð½Ð°ÑÐµÐ½Ð¸Ð¸ Ð½ÑÐ¶Ð½Ð¾Ð³Ð¾ Ð¼ÐµÐ´Ð¸ÐºÐ°Ð¼ÐµÐ½ÑÐ¾Ð·Ð½Ð¾Ð³Ð¾ Ð»ÐµÑÐµÐ½Ð¸Ñ.
description: Breast cancer today is one of the most common oncological diseases, as it ranks first among the female population in most economically developed countries. About 30% of hereditary breast cancers are caused by mutations in the BRCA1 and BRCA2 genes. The lack of an algorithm for molecular genetic testing of hereditary breast cancer for BRCA in Russia does not allow to fully implement the necessary therapeutic measures. Therefore, the aim of this work is to develop a new molecular genetic test based on the allelic discrimination method, which would effectively detect hereditary mutations in the BRCA1 and BRCA2 genes that are characteristic of the Slavic population.In the course of the work, 93 DNA samples of breast cancer tumors were analyzed using the allelic discrimination method. For this, the necessary oligonucleotides were selected, and the compiled test panel was tested and optimized. Experimental data have shown that this method allows the correct identification of mutations and does not require additional sequencing, which significantly reduces the cost of the study, and makes it more accessible and faster. Since the reaction takes place in a single well/tube, this greatly speeds up and streamlines work, and avoids the risk of cross-contamination. And as a result, this method in the future will allow you to quickly make a decision on the appointment of the necessary drug treatment for patients with breast cancer.