The problem of primary multiplicity of malignant tumors remains actual in oncology due to growing number of patients with polyneoplasia especially of the breast. Modern genetic studies use “genetically enriched” cases of cancer, which include in particular primary-multiple malignant tumors of the breast. Practically every tumor has an individual set of somatic mutations and genetic mechanisms of breast cancer appearance are very different. The multicentre study shows the role of recessive determinants of the predisposition to bilateral breast cancer without a family history. The obtained data could be used in clinical practice as a secondary prevention of breast cancer.

The article presents the world experience of cytoreductive surgery for ovarian cancer (OC) according to literature data and also estimates the thirteen-year experience of the Oncogynecology Department of the N.N. Petrov National Medical Research Center of Oncology in the treatment of OC patients. Materials and methods: In order to analyze the results of treatment for thirteen years it is proposed a comparative evaluation of results of primary and interval cytoreductive operations in 213 patients with OC. For this purpose all patients depending on the start of treatment were divided into two groups: a group of patients with an advanced OC where treatment started with neoadjuvant chemotherapy and a group of patients with an advanced OC where primary cytoreductive surgery was performed at the start of treatment. In these groups the long-term results of treatment were studied: platinum-free interval and life expectancy. Results: When studying the effect of a number of neoadjuvant chemotherapy courses on long-term results of treatment it was established that the best results for platinum-free interval were obtained in a 3-course group of neoadjuvant chemotherapy - platinum-free interval was 9.6 months compared to 6.9 and 4.7 months in groups of 4 and> 5 courses although the differences in the groups did not reach statistically significant rates (p = 0.337). The increase in a number of postoperative chemotherapy courses in our study also statistically was unreliable and had a negative effect on survival: patients from the neoadjuvant chemotherapy group with> 3 courses of postoperative chemotherapy had 9.6 months versus 11.7 months in patients with 3 courses p = 0.787); life expectancy was 35.6 months compared to 30.9 months respectively (p = 0.968). The same tendency was also observed in patients from the primary cytoreduction group: in the group of patients with> 3 courses of postoperative chemotherapy platinum-free interval was 10.2 months compared to 16.3 months in patients with 3 courses (p = 0.312); life expectancy was 54.4 months compared with 48.7 months respectively (p = 0.435). The Kaplan-Meier survival estimation revealed a statistically significant improvement in life expectancy index for patients from the primary cytore-duction group (median survival time 53.7 months, 95 % CI 41.9-73.6 months) compared to patients in the neoadjuvant chemotherapy group (median life expectancy 33.0 months, 95 % CI 20.6-42.0 months, p <0.000001).

BRCA1 and BRCA2 germ-line mutations are associated in increased cancer risk both in women and in men. This article summarizes clinical recommendation of European Society for Medical Oncology (ESMO), National Comprehensive Cancer Network (NCCN) and other professional societies regarding inclusion criteria for BRCA-testing, diagnostic activities aimed to detect early cancers in BRCA1/2 mutation carriers as well as approaches to prevention of BRCA-driven cancers. The adjustment of existing clinical recommendations to health care realities in Russian Federation is discussed

The study included 160 patients with advanced ovarian cancer (OC) who underwent combined treatment from January 2000 to January 2013 at the N.N. Petrov Research Institute of Oncology. Compared to non-mutated patients, BRCA-positive patients were characterized by a longer platinum-free interval (BFI) (14 months [95% CI 9.6-36.4 months] versus 8 months [95% Ci 4.8-12.4 months]; P = 0.006), with the largest median of the BFI were established using the CAP scheme - 33.5 months versus 12 months using the TCbP scheme. Half of patients with a mutation in the BRCA1 gene (20/40 (50%)) had an isolated recurrence in the pelvic area versus 35/120 (29.2%) of patients without mutations (p = 0.00001). The progression of distant foci in the first recurrence of the disease in patients with mutations was significantly lower (15/40 (37.5%) versus 84/120 (70%), p = 0.00001). In addition 85% of recurrences in BRCA-positive patients were platinum-sensitive. Only the age of patients with advanced OC was an independent prognostic factor of BFI since the start of treatment (p = 0.00001).

Tuberous sclerosis is a hereditary disease of phakomatoses group, characterized by the development of multiple hamartomas of brain, eyes, skin and visceral organs. Diagnostics of tuberous sclerosis requires identification of pathogenic mutations within TSC1 or TSC2 genes. Here we present a description of clinical case of tuberous sclerosis followed by detection of the causative mutation.