e22504 Background: In oncology hereditary forms of malignant neoplasms occupy a special position due to the frequent cases at a young age and poor prognostic factors. The aim of this work is to determine in cancer patients germinal mutations which are responsible for cancer predisposition. Methods: The study included patients with burdened family history or those with a manifestation of malignant neoplasm at a young age residing on the territory of multinational Republic of Bashkortostan. The patients were diagnosed with one of these diseases: breast cancer, prostate cancer, pancreatic cancer, gastric cancer, colon cancer. The study is based on analyses of the molecular genetic blood testing n cancer patients using real-time polymerase chain reaction (PCR) for detection of 8 widely spread mutations among Russian population: in BRCA 1 gene were detected such mutations as 185delAG, 4153delA, 5382insC, 3819delGTAAA, 3875delGTCT, 300T>G, 2080delA; in gene BRCA 2 - 6174delT. Blood samples of the rest amount of patients which proved no mutations by PCR method was tested by the “next-generation” sequencing method (NGS). Results: The results of the study showed territorial features of presence of germinal mutations of Russian multinational region. The results of the study aimed to reveal the spectrum and frequency of gene mutations characteristic for the particular region: BRCA 1 - c.5266dupC, c.3143delG, c.5161C>T, c.5382 insC, c.3819delGTAAA, c.300T>G, c.5136G>A, 185delAG, 4153delA, 2080delA; BRCA 2 - c.6621_6622del, с.39-1_39delGA, c.961_962insAA; CHEK2 - c.470T>C, c.444+1G>A; PALB2 - c.1592delT; RAD50 - c.2157delA; MLH1 - c.1637A>G; MSH6 - c.2554_2556del; STK11 - c.368A>G; MSH2 - c.815C>T. According to the mutation detection the patient consulted a geneticist for making a genealogic tree for future molecular genetics exam. Hereinafter the control group included relatives of patients who remain potential carriers of pathogenic mutations of the proband using Sanger sequencing method. When penetrate mutations are identified in healthy population, a set of measures is taken to prevent and early diagnose malignant tumors. Conclusions: The results of the study showed features of presence of each detected mutation which is characteristic for south-eastern part of the Russian multinational region. This study plays an important role in the process of optimization of screening of germinal mutation carriers among healthy population and as a result it helps to conduct prophylactic measures to early diagnose malignant neoplasms.
Introduction. Benign mammary gland tumors constitute a group of heterogeneous diseases with a complex clinical and morphological structure that complicates timely diagnosis and terminological designation of pathological processes. They are of great interest because of their possible background for oncologic pathology. The most widespread disease is mastopathy, its occurrence rate in the population reaches 40%. The incidence of mastopathies increases by the age of 45 years, and then tends to decrease in the pre- and postmenopausal periods. The purpose of the review was to evaluate and analyze the literature data on the presented problem in recent years. Materials and methods. Publications of domestic and foreign authors on benign breast neoplasms and risk factors of this pathology over the past 20 years have been included in the article. Literature search was performed in the systems Scopus, Web of Science, PubMed, Elibrary. Results and discussion. Etiopathogenetic factors in patients with benign mammary gland tumors play a paramount role, substantiating the necessity of prognostication and prevention of the disease. Risk factors for these diseases include hereditary, hormonal, neuropsychological, reproductive data, age, lactation, inflammation, trauma, smoking, and others. Conclusion. The current dynamic of increasing the incidence of benign mammary tumors has been noted, but no specific risk factors for this group of diseases have been identified, as they are multifactorial, associated with genetic causes, somatic health data, and environmental influences. Not all women are equally at risk of developing breast diseases, the reasons characterizing the individual propensity for this pathology have been identified. The risk factors do not cause the development of the disease, but considerably increase its probability. The study of predisposing risk factors for the development of tumor processes in the mammary glands in order to diagnose them early gives an opportunity to improve the results and prognosis of treatment.
The review covers recent research on cancer as a genetic disease manifesting both sporadically and in germline through variant genomic mutations or DNA rearrangements. This change can be point mutations, chromosomal aberrations or hypermethylation leading to DNA repair failures. Defects in tumour suppressor genes (BRCA1, BRCA2, CHEK2, PTCH1, etc.) underly hereditary predisposition to breast cancer (BC) and ovarian cancer (OC) due to genome instability. Studying somatic mutations is key to the understanding of carcinogenesis mechanisms and finding apt therapies. Heterogeneity of cancers renders the tumour mutation profiling uneasy. The treatment choice and efficacy in BC and OC depends on homologous recombination defects in tumour cells usually imposed by damaged BRCA1/2 genes. CHEK2- associated neoplasms account for most hereditary BCs linked to flaws in the DNA repair machinery. Overexpression of the PTCH1 protein is the target in breast, lung, ovarian, colonic cancers, etc.Genetic research has fundamentally altered our understanding of the aetiology and pathogenesis of human malignancy. The molecular cancer phenotype is of paramount importance in the disease prognosis and treatment personalisation.
Descripton of metastatic HER2-positive breast cancer clinical case is introduced, multilineal strategy basing on clinical situation and disease features is justified, justification of the choice of anti-HER2 treatment in every line is made, in compliance with russian and foreigh oncology associations guidelines, along with comparance of rutine treatment results and randomised trials data.
Breast cancer (BC) is a heterogeneous disease characterized by the presence or absence of membrane receptor overexpression on tumor cells that correlates with the disease prognosis. Understanding of the patterns and mechanisms of tumor progression gained through clinical experience of managing BC patients is important. The treatment strategy depends on the hormone receptor status of the tumor, the HER2 / neu expression, and the proliferative activity level. A clinical case of advanced luminal A breast cancer is reported, and the rationale for sequential treatment strategy is provided taking into account the clinical situation and clinical course of the disease. Adequate endocrine therapy for hormone-positive metastatic BC provides long-term tumor control like in this case, as well as a high quality of life over the entire course of sequential treatment with anticancer drugs.
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