Abstract. Excision repair cross-complementation group 1 (ERCC1) gene expression analysis is currently used widely in the molecular diagnosis of cancer. According to numerous studies, ERCC1 gene expression correlates with overall survival and effectiveness of chemotherapy with platinum agents. However, the degree of this correlation differs among various studies, with certain authors reporting a complete lack of such a correlation. These contradictions may be attributed to a number of factors, including the heterogeneity of the tumor tissue. In this study, we attempted to assess the degree of genetic heterogeneity exhibited by tissue samples obtained from non-small-cell lung cancer (NSCLC) through the expression of the ERCC1 gene. This study included 25 samples of tumor tissue from patients with a morphologically confirmed NSCLC diagnosis. A total of three randomized sections of each specimen were used. The ERCC1 gene expression was assessed by quantitative polymerase chain reaction (qPCR) in the TaqMan format. When planning the experiment and analysis of qPCR data, the MIQE guidelines were taken into consideration. We established that the coefficient of variation of the relative level of ERCC1 gene expression in the majority of the samples exceeded 33% (P<0.05), indicating the significant heterogeneity of the sample. We also demonstrated that the degree of heterogeneity of the tumor tissue is largely dependent on disease stage.
Республиканский научно-практический центр онкологии и медицинской радиологии им. Н. Н. Александрова, а/г Лесной, Беларусь 2 Институт энергетики НАН Беларуси, Минск, Беларусь Введение. Представлены данные анализа заболеваемости злокачественными новообразованиями родственников первой степени родства пробандов с глиальными опухолями головного мозга. Цель. Изучение заболеваемости злокачественными новообразованиями родственников первой степени родства пробандов со злокачественными глиальными опухолями головного мозга для определения значения генетической компоненты. Материал и методы. В исследовании использованы показатели популяционной заболеваемости злокачественными новообразованиями населения Беларуси и оценочные числа заболеваемости родственников первой степени родства пациентов в интервале времени, соответствующем средней длительности жизни населения Беларуси. Результаты. По данным выполненного анализа, родственники первой степени родства имеют повышенный риск заболеваемости злокачественными новообразованиями головного мозга, прямой кишки, щитовидной железы и тела матки. Однако статистически достоверный риск обнаружен только для заболеваемости злокачественными новообразованиями мозга. Стандартизованная заболеваемость родственников первой степени родства по этой локализации составила 3,39 (95% ДИ от 1,10 до 7,92), что соответствует результатам, установленным специалистами других стран мира (США, Швеция и др.). Выводы. Значение генетической компоненты глиальных опухолей головного мозга у родственников первой степени родства пробандов с установленным диагнозом злокачественных глиальных опухолей головного мозга составило 70,5% (95% ДИ от 9.0 до 87,4%).
The article presents a simplified analytical method of evaluating the cancer incidence in first-degree relatives with glial brain tumors. The method is based on the use of population cancer incidence rates in the Belarus population and the estimated numbers of first-degree relatives in the time interval corresponding to the average life span in the Belarus population. This method was employed to analyze the cancer incidence in the patients of first-degree relatives who were treated at the N.N. Alexandrov National Cancer Centre. Their diagnosis was the glial brain tumor. The number of the investigated first-degree relatives was 1012, of them 502 were males and 510 – females. As of December 31, 2015, this group had 63 cases of malignant neoplasms. According to the findings of the analysis performed, the first-degree relatives are at an increased risk for brain, rectum, thyroid and corpus uteri cancers. However, the statistically significant risk was found only for brain cancer incidence. The standardized incidence rate in first-degree relatives was 3.39 for this site (95 % CI 1.10–7.92), which is consistent with the data obtained by specialists of other countries (USA, Sweden and others).The agreement of the standardized incidence values suggests that the simplified analytical method provides an adequate account of the incidence among the patients of first-degree relatives with an established diagnosis of malignant neoplasm.
Relevance. Currently, the range of vegetable crops has firmly entered the bean, the protein of which is absorbed by the human body by 87% or higher. The main factor limiting the cultivation of beans in Belarus is the lack of varieties of this crop that are resistant to mycological diseases, primarily Anthracnose.Materials and methods.The study included 34 samples of vegetable beans of mutant and hybrid origin obtained in the sector of legumes of vegetable crops of RUP "Institute of vegetable growing of the National Academy of Sciences of Belarus". To obtain a mutagenic effect, induced mutagenesis was used in the form of the action of a radioactive isotope 60Со and a neodymium laser. Hybrid combinations were obtained by intraspecific hybridization of mutant samples. For molecular genome testing, DNA was isolated from plant leaves before flowering, and its purification was performed by Fermentas using a Genomic DNA Purification Kit. The concentration of the resulting DNA solution was determined by a spectrophotometric method on a CARY 50 SCAN. A Thermo Hybaid RX2 amplifier was used for PCR. The annealing temperature of the primer was determined using the program "oligocalculator". The CV 2014 primer was used as a marker. resistant genotypes to Colletotrichum lindemuthianum Br. et Cav were at the band level of about 450 BP. Phytopathological assessment of plant infectivity was carried out on the basis of visual and instrumental methods, taking into account the reaction of plants and the intensity of the lesion, in the conditions of a natural infectious background in the phase of technical ripeness.Results. Seven samples of beans were identified that have genetic resistance to Anthracnose and show it in the conditions of a natural infectious background.
Резюме. В работе показано, что наиболее значимыми факторами, влияющими на выживаемость пациентов с глиальными опухолями головного мозга, являются Grade, наличие/отсутствие IDH1 мутации, возраст. Значения статистически достоверны (p <0,001). Предложен метод выявления мутации гена IDH1 R132H с использованием АС-ПЦР. Мутации были выявлены в 36/95 (37,9%) случаях методом секвенирования и 38/95 (40%) методом ПЦР. Результаты для мутации гена IDH1 R132H совпали в 94,7% случаев. В 2 случаях была методом ПЦР обнаружена мутация R132H, что свидетельствует о более высокой аналитической чувствительности метода АС-ПЦР. В одном случае обнаружена мутация R132G методом секвенирования (один случай анапластической астроцитомы Grade III, один случай астроцитомы Grade II). Диагностическая чувствительность предлагаемого метода АС-ПЦР составляет 95%. Аналитическая чувствительность метода АС-ПЦР составляет 10%. Доказана роль полиморфизма Rs2853669 как прогностического фактора увеличения выживаемости пациентов с TERT-мутантной глиобластомой, позволяющего относить пациентов в группы риска с благоприятным и неблагоприятным прогнозом. Ключевые слова: глиальные опухоли, головной мозг, молекулярно-генетические исследования, аллель-специфичная ПЦР, секвенирование по Сэнгеру.
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