10 research outputs found
СПЕКТР МУТАЦИЙ ГЕНА BRCA1 У БОЛЬНЫХ РАКОМ МОЛОЧНОЙ ЖЕЛЕЗЫ В МОЛОДОМ ВОЗРАСТЕ В РОССИИ
Aim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients.Material and methods. Complete coding sequence of the BRCA1 gene of 445 early onset breast cancer patients (under 40 years) from Novosibirsk region (Russia) were analyzed by targeted Next Generation Sequencing (NGS) using Ion Torrent platform. Results. Forty (9%) carriers of various pathogenic mutations were revealed. Thirty five (7,9%) patients carried 5382insC mutation, described earlier as a founder mutation for Slavic population. Five (1.1%) patients carried various pathogenic mutations, namely C61G, 462delCC, E143X, 4153delA, and IVS18+1G>T. Besides, 29 genetic variants with no clinical significance or with unknown clinical significance were detected in BRCA1 gene among 445 early onset breast cancer patients. Conclusions. Data on the frequency of genetic variations in the BRCA1 gene among early onset breast cancer patients in the Novosibirsk Region (Russia) were obtained. Proportion of the 5382insC mutation is 87.5% of all pathogenic mutations in the BRCA1 gene found in patients.Цель исследования – оценить частоту встречаемости патогенных мутаций в BRCA1 гене у женщин с раком молочной железы, проживающих в России.Материал и методы. Проведён анализ полной кодирующей части гена BRCA1 у 445 больных раком молочной железы на ранней стадии (возраст больных до 40 лет), проживающих в Новосибирской области (Россия), с помощью метода таргетного секвенирования на платформе Ion Torrent. Результаты. Выявлено 40 (9 %) носительниц различных патогенных мутаций. У 35 (7,9 %) пациенток обнаружена мутация 5382insC, описанная ранее как «мутация-основателя» в славянской популяции. У 5 (1,1 %) пациенток были выявлены другие различные патогенные мутации, а именно C61G, 462delCC, E143X, 4153delA и IVS18 + 1G> T. Кроме того, 29 генетических вариантов с отсутствующей или неясной клинической значимостью были обнаружены в гене BRCA1 у 445 больных раком молочной железы на ранней стадии. Выводы. Получены данные о частоте генетических вариаций гена BRCA1 у больных раком молочной железы на ранней стадии, проживающих в Новосибирской области (Россия). Доля мутации 5382insC составляет 87,5 % от всех патогенных мутаций в гене BRCA1, обнаруженных у пациенток
Asymptotic Behavior of Solutions of Some Linear Difference Equations with Oscillatory Decreasing Coefficients
Reactions of powdered disilicides of groups IV?VI transition metals with some acids and sodium hydroxide solutions
The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia
Aim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients.Material and methods. Complete coding sequence of the BRCA1 gene of 445 early onset breast cancer patients (under 40 years) from Novosibirsk region (Russia) were analyzed by targeted Next Generation Sequencing (NGS) using Ion Torrent platform. Results. Forty (9%) carriers of various pathogenic mutations were revealed. Thirty five (7,9%) patients carried 5382insC mutation, described earlier as a founder mutation for Slavic population. Five (1.1%) patients carried various pathogenic mutations, namely C61G, 462delCC, E143X, 4153delA, and IVS18+1G>T. Besides, 29 genetic variants with no clinical significance or with unknown clinical significance were detected in BRCA1 gene among 445 early onset breast cancer patients. Conclusions. Data on the frequency of genetic variations in the BRCA1 gene among early onset breast cancer patients in the Novosibirsk Region (Russia) were obtained. Proportion of the 5382insC mutation is 87.5% of all pathogenic mutations in the BRCA1 gene found in patients