6 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
Эффективность и безопасность эрибулина при различных подтипах рака молочной железы: данные из реальной клинической практики в России
The article presents a pooled experience of the use of eribulin in the real clinical practice of treatment of metastatic breast cancer in Russian oncological institutions. The effectiveness of the drug in monotherapy with HER2‑negative breast cancer was analyzed, groups of patients with most effective use of eribulin were identified depending on the localization of metastases, the most effective lines of therapy. The effectiveness of the drug in combination with trastuzumab in HER2‑positive breast cancer is described, as well as toxic reactions. В статье представлен обобщенный опыт применения эрибулина в реальной клинической практике онкологических учреждений РФ при метастатическом раке молочной железы. Проанализирована эффективность препарата в монотерапии при HER2-отрицательном раке молочных желез, выделены группы больных в зависимости от локализации метастазов, линии терапии, в которых препарат оказался максимально эффективным. Описана эффективность препарата в комбинации с трастузумабом при HER2-положительном раке молочной железы, а также токсические реакции.
DETECTION OF MUTATIONS RELATED TO HEREDITARY CANCER IN RELATIVES OF BREAST CANCER PATIENTS
The BRCA1 5382insC and CHEK2 1100 delC mutations were analyzed in 3850 of non-selected breast cancer patients residing in Novosibirsk region, Russia. One hundred seventy probands, BRCA1 5382insC or CHEK2 1100delC mutation carriers, were found. The study demonstrated that more than 80 % of probands informed relatives about their hereditary or familial cancer risk. Fifty-nine BRCA1 5382insC and CHEK2 1100 delC mutation carriers were found among 144 proband’s relatives. Mutation carriers or their relatives were interviewed two years after starting the project. At least 18 % of the mutation carriers reported primary tumor or recurrence of the tumor 2 years after starting the project
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