Summary. Aim: To examine frequencies and spectrum of genomic alterations in Ukrainian patients diagnosed with primary myelofibrosis (PMF). Materials and Methods: We enrolled 30 Ukrainian patients diagnosed with PMF who were previously tested for usual mutations in mye­loproliferative neoplasms driver genes (JAK2, MPL and CALR). Genomic DNA samples were obtained from peripheral blood leukocytes of these patients. Copy number alterations and copy-neutral loss of heterozygosity (cnLOH) were assessed using a high-density CytoScan HD microarray platform. Statistical significance was evaluated by the Fisher exact test. Results: We identified frequent genomic alterations, but no significant difference in the rates of copy-number loss, copy-number gain, cnLOH, or multiple genomic alterations were found in the groups of PMF patients that were positive for one of the usual mutations in driver genes or negative for such mutations (33.3% and 55.6%, p = 0.4181, 19.0% and 11.1%, p = 1.0000, 61.9% and 44.4%, p = 0.4434, 33.3% and 55.6%, p = 0.4181, respectively). The most frequent alterations were cnLOH at 1p36-1p22, 9p24.3-9p13.3 and 11q12.3-11q25; copy number loss at 7q21-7q36.3 and 13q12.3-13q14.3. Copy number alterations and cnLOH commonly affected the EZH2, LAMB4, CBL, CUX1, ATM, RB1 and TP53 genes, in addition to JAK2, MPL and CALR. Conclusion: We demonstrated the spectrum of genomic alterations in the groups of the Ukrainian PMF patients with or without the usual mutations in the specific driver genes. We identified several potential genes, which may be involved in the myeloproliferative neoplasms development and their phenotype modification (EZH2, LAMB4, CBL, CUX1, ATM, RB1 and TP53).

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In the article there were looked some aspects of the knowledge regarding mutations in BRCA1 BRCA2 genes that have been accumulated since the first report on role of these genes in the development of breast and ovarian cancer. Most of them have practical worth related to the detection of mutations, as well as the prevention and treatment of associated ovarian cancer (the article focuses specifically on ovarian cancer, conditioned to relatively less amount of information on this pathology). There has been paid attention to the rational assignment of a genetic test on the presence of mutations in BRCA genes.Keywords: ovarian cancer, mutations in BRCA1 BRCA2 genes, screening of the presence mutations in BRCA1 BRCA2 genes.

Aim.To study ssociation of the FGFR2 and TOX3/LOC643714 genetic polymorphisms with the BRCA1/2 mutation status in Ukrainian female breast cancer patients without ionizing radiation impact in their histories. Methods. Molecular genetics methods were used. Nonparametric data were evaluated using the two-way Fisher's Exact test. Statistical analysis was performed using the StatPlus Pro program package. Results. Association of genetic polymorphisms rs2981582 of the FGFR2 gene and rs3803662 of the TOX3/LOC643714 gene with the mutation status of the BRCA1/2 genes in breast cancer patients non-treated with ionizing radiation in their histories was shown. The association between the minor genotype of the TOX3/ LOC643714 gene and the positive status of the BRCA1 gene was found to be reliable. No statistic association was found between homozygotes for the major alleles and heterozygote polymorphisms of the FGFR2, TOX3 / LOC643714 genes, with or without BRCA1/2 mutations (p < 0.05). K e y w o r d s: breast cancer, genetic polymorphisms, BRCA1/2 mutations.Breast cancer is the most commonly occurring cancer among women world wide [1]. In Ukraine it accounts for over 20 % of all malignant tumors and is the second most frequent cause of cancer-related death [2].Despite the fact that most cases of breast cancer are sporadic, 25 % of them are associated with hereditary inheritance factors of high penetrance genes for the development of breast cancer, and family history remains the best indicator of their individual risk [3]. Among the known predisposition genes, the BRCA1 and BRCA2 mutations have the strongest influence on the susceptibility of the disease and the risk of developing breast cancer to 85 % of the mutation carriers [4,5].

Aim. Detection of changes in epidermal growth factor receptor 2 (HER-2/Neu) in tumor cells is critical to patient prognosis, prediction of response to standard chemotherapy, and perspectives for the treatment of anti-HER-2 therapy. Methods. The research study was conducted according to the recommendations of ASCO/CAP 2013 to diagnose cases of determining gene expression HER-2/Neu by FISH. To identify the exact status of the gene HER-2/Neu TP53 marker was selected. Results. A statistically significant difference (χ2 = 3.36, p>0.05) was found among the questionable cases of mutated HER-2 / neu in the patient groups which was surveyed according to 2007 and 2013 years recommendations. Conclusions. In comparison with 2007 ASCO/CAP 2007 (from 1.4 % to 4.2 %) 2013 ASCO/CAP showed more cases which was classified as doubtful during the test with two-color breakdown HER-2/CEP17. Keywords: HER-2/Neu, mutation status, FISH, centromere area, TP53.