Exome Sequencing: the Search for Mutations Associated with Hereditary Breast and Ovarian Cancers in the Tuvan Ethnic Group (A Pilot Study).

Whole exome sequencing of peripheral blood samples from Tuvan females diagnosed with breast and ovarian cancers (BC/OC) was performed to search for new genes involved in BC/OC pathogenesis. Considering the high cost of whole exome sequencing and study material requirements, 9 samples were selected from 61 genomic DNA samples. A mutation in the LGR4 gene (rs34804482) involved in the tumor-mediated Wnt signaling pathway and a mutation in the BRWD1 gene (rs147211854) involved in chromatin remodeling were identified in BC patients.

Germline variants associated with breast cancer in Khakass women of North Asia.

Introduction: Variants in the BRCA1/2 genes are responsible for familial breast cancer. Numerous studies showed a different spectrum of BRCA variants among breast cancer patients of different Ethnicity origin. In the available literature, no previous research has focused on breast cancer-associated variants among the Khakass people (the indigenous people of the Russian Federation).

New germline mutations in BRCA1, ATM, MUTYH, and RAD51D genes in Tuvans early-onset breast cancer patients.

Background: In Russia, more than 50,000 women are diagnosed with breast cancer (BC) every year. Russia is a multinational country - about 200 ethnic groups live on its territory. Khakass, Buryats, Tuvans and other ethnic groups show higher rate of increase in BC incidence and a younger age of first diagnosed BC compared to Caucasian ethnicities.

New germline mutations in non-BRCA genes among breast cancer women of Mongoloid origin.

In accordance with the Asian BRCA Consortium data, there is a significant difference in incidence rate of breast cancer depending on age, as well as spectrum and prevalence of BRCA1/2 mutations between Mongoloid (East Asian) and Caucasoid (European) people. However, European strategies to identify familial BC are still applied to the Asian population, including Russian Mongoloids (Khakas, Buryats, Tyvans and Yakuts and others). The main purpose of the study was to identify molecular changes associated with hereditary BC in Russian Mongoloid BC patients (Buryats).

New germline BRCA2 gene variant in the Tuvinian Mongol breast cancer patients.

To date, there are a limited number of reports on inherited gene mutations associated with breast cancer (BC) among Mongoloid indigenous people in Russia. The present study aimed at identifying the BC-associated genes in 26 Russian Mongoloid BC patients (Buryats, Tuvinians and others). The median age of the patients at the time of breast cancer diagnosis was 41 years (range 25-51 years).

[Improving renal cancer care].

The article reviews the rates of incidence, late diagnosis and mortality from kidney cancer in Primorsky Krai. The authors address the issues of improving primary and specialized medical care by introducing a three-level health care system and restructuring of hospital beds. They propose a new medical technology for assessing the individual risk of kidney cancer and present a program of measures and organizational modules for prevention, early diagnosis and reduction of mortality from kidney cancer.

[Survival of breast cancer patients in the Republic of Buryatia].

There was studied population-based survival of 1689 breast cancer patients in the Republic of Buryatia whose had been di- agnosed in 2007-2013 on the basis of cancer registry database. There was performed an estimation and analysis of observed adjusted and relative survival. The higher stage of the disease and older age of women at the diagnosis the lower rates of 1- and 5-year survival.

[Breast cancer mortality in the Republic of Buryatia].

Breast cancer is the most common cause of cancer death in the Republic of Buryatia as a whole and among urban population (13.3 % and 16.0 %, respectively), and the second place belongs to rural population (11.

[Renal cancer in the Primorye Territory. Risk factors].

The epidemiological study in Vladivostok and Primorye Territory in period 1999 to 2013 was performed. In the structure of cancer incidence at the evaluated areas, renal cancer occupies fifth place among male population (5.7 and 5.

[Cancer incidence in the Altai Republic].

From all regions of the Siberian Federal District (SFD), the Altai Republic is the least urbanized territory, more than third of its population is Altai. The Altai Republic ranks the 11th for cancer incidence among 12 territories of SFD. Cancer incidence rate is 1.

[Cancer mortality in the Altai Republic].

Cancer mortality rate in the Altai Republic is the lowest among the territories of the Siberian Federal District. Cancer mortality rate in females is 1.9 times lower than that in males.

[Oral cavity and pharynx cancer in the region of Siberia and Far East].

The objective of the present work was to study the prevalence of malignant oral cavity and pharynx neoplasms among the population of the region of Siberia and Far East. These neoplasms are the ninth most frequent conditions in the structure of malignant tumours among the male population and rank the eighteenth among the women. On the whole, the morbidity rate of oral cavity and pharyngeal cancer (3.

[The medical demographic situation in the Republic of Altai].

The demographic situation impacts the level of morbidity indirectly. The evaluation of demographic situation if the Republic of Altai was made. In 2010, in the ethnic structure of population the percentage of Russians reduced up to 55.

[Ethnic aspects of hereditary breast cancer in the region of Siberia].

Background: Ethnic diversity of the population in the region of Siberia suggests the existence of different germline mutations in the BRCA1/2 genes associated with breast and ovarian cancer in different ethnic populations, but spectrum of these mutations has not been studied.

Objective: Our aim was to evaluate the frequency of the most common mutations BRCA1/2 (BRCA1 5382insC, BRCA1 185delAG, BRCA1 4153delAG, BRCAI T300G, BRCA2 6174delT) in women diagnosed with breast cancer among indigenous people and newcomers living in Siberia.

Methods: We tested 1281 genomic DNA samples for the presence of BRCA1 5382insC mutation in patients diagnosed with breast cancer considering no family history.

[The epidemiology of renal cell carcinoma in the regions of Siberia and the Far East (1994-2008)].

The article presents the results of an epidemiological study of territorial and temporal characteristics of incidence of renal cell carcinoma in population of Siberia and the Far East, taking into account age and gender. In the average, regional incidence of renal cell carcinoma in men was 10.6 +/- 0.

[Prostatic cancer in males living in the Khabarovsk, Komsomolsk-on-Amur and Khabarovsk region].

In 2004-2008 the Khabarovsk Region was considered as a territory of an increased risk for prostate cancer with the incidence rate of 22.2 +/- 1.6 per 100000 males.

[Risk factors in the development of hemoblastoses in the population of the Tomsk Region].

The Tomsk Region belongs to the areas of Siberia and the Far East which show a higher risk for hemoblastoses in the population. Chronic leukemia are prevalent in the structure of oncohematologic morbidity in the Tomsk Region as compared with other areas of Siberia and the Far East. There is a relationship of technogenic environmental pollution to the incidence of some nosological entities of hemoblastoses in the Region.

[The electrophysiological characteristics of the plasma membrane of rat macrophages at rest and under exposure to ATP].

The application of ATP in micromolar concentrations to the macrophages results in a biphasic response in the form of the short-time depolarization followed by a rather long hyperpolarization, the corresponding inward and outward macroscopic currents being observed. The ATP-induced hyperpolarization is accompanied by changes in current kinetics, I/V-curves pattern and shifting in the reversal potential. Such changes may be explained by a supposition that ATP activates an additional fraction of potassium channels with characteristics other than those in cells with initially low value of membrane potential.

[Changes in the membrane potential of rat peritoneal macrophages under the extracellular action of ATP].

In rat peritoneal macrophages the patch-clamp technique in whole-cell configuration was used to study modifications of membrane potential as a result of extracellular application of micromolar ATP concentration. The registered changes in membrane potential appeared to be of different form and polarization depending on the presence of Ca2+ in extracellular solution and on the concentration of calcium buffer inside the cell. A mechanism of membrane potential changes and their possible connection with the generation of a Ca2+ signal in the cell are discussed.

[Role of migration processes in oncologic epidemiology of Siberia and Far East].

The paper presents the analysis of the cancer death rates among the population of a Norilsk industrial area and compares the rate and structure among newcomers and natives. The persons who long live in this area more frequently die of cancer diseases than migrants. They have high mortality rates for most sites (the stomach, esophagus, bowel, liver, pancreas).

[Simultaneous operations in the surgical treatment of cancer of the esophagus and cardia].

In the clinic one-stage operations for cancer of the esophagus of different localizations and cardia were performed on 63 patients. The substitution of the removed esophagus was fulfilled with an isoperistaltic tube made from the greater curvature of the stomach with anastomosis on the neck or in the pleural cavity. After intrapleural plasty lethality was 21%, after total one with extracavital esophagogastroanastomoses--14%.

The action of blood serum and its components on potential-dependent sodium channels in neuroblastoma cells.

Blood plasma, serum and its fractions containing components of different molecular weights as well as some identified serum constituents were tested for their action on sodium currents of voltage-clamped, internally dialyzed neuroblastoma cells. Only components with a molecular weight over 50 kDa produced a persistent increase in sodium channel currents (stimulatory effect) and shifts in activation and inactivation curves along the voltage axis towards more negative or positive potentials, respectively (modifying effect). Both modulations taken together provide a somewhat higher level of sodium electro-excitable system activity.

[Factors determining the functional activity of Na,K-ATPase].

A comparative estimation was made of modifications of Na,K-ATPase and Mg-ATPase parameters in the process of phylogenesis and as a result of sudden thermal selection. On the basis of our own and literary data a suggestion was put forward about the availability of quite different ways of thermal adaptation in ATP-hydrolyzing enzymes associated with different physiological functions.