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Background. Breast cancer (BC) is the most common female malignancy worldwide. Partner And Localizer of BRCA2 gene (PALB2) is directly involved in DNA damage response. Germline mutation in PALB2 has been identified in breast cancer and familial pancreatic cancer cases, accounting for approximately 1–2% and 3–4%, respectively. The goal of this report was to describe new PALB2 mutation in a young Yakut breast cancer patient with family history of cancer. Material and Methods. Genomic DNA were isolated from blood samples and used to prepare libraries using a capture-based target enrichment kit, Hereditary Cancer Solution™ (SOP HiA GE NETICS , Switzerland), covering 27 genes (ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, FAM175A, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, PALB2, PIK3CA, PMS2, PMS2CL, PTEN, RAD50, RAD51C, RAD51D, STK11, TP53 and XRCC2). Paired-end sequencing (2 × 150 bp) was conducted using NextSeq 500 system (Illumina, USA ). Results. Here we describe a case of a never-before-reported mutation in the PALB2 gene that led to the early onset breast cancer. We report the case of a 39-year-old breast cancer Yakut woman with a family history of pancreatic cancer. Bioinformatics analysis of the NGS data revealed the presence of the new PALB2 gene germinal frameshift deletion (NM_024675:exon1:c.47delA:p.K16fs). In accordance with dbPubMed ClinVar, new mutation is located in codon of the PALB2 gene, where the likely pathogenic donor splice site mutation (NM_024675.3:c.48+1delG) associated with hereditary cancer-predisposing syndrome has been earlier described. Conclusion. We found a new never-before-reported mutation in PALB2 gene, which probably associated with early onset breast cancer in Yakut indigenous women with a family history of pancreatic cancer.

Background. The identification of the ethnospecific mutations associated with hereditary breast cancer remains challenging. Next generation sequencing (Ngs) technology fully enables the compilation of germline variants associated with the risk for inherited diseases. Despite the success of the Ngs, up to 20 % of molecular tests report genetic variant of unknown significance (Vus) or novel variants that have never been previously described and their clinical significances are unknown. To obtain extended information about the variants of the unknown significance, it is necessary to use an alternative approach for the analysis of the Ngs data. To obtain extended characteristic about the unknown significance variants, it is necessary to search for additional tools for the analysis of the Ngs data. Material and methods. We reclassified the mutation of the unknown significance using the activedrivedb database that assessed the effect of mutations on sites of post-translational modifications, and the proteinpaint tool that complemented the existing cancer genome portals and provided a comprehensive and intuitive view of cancer genomic data. Results. In this study, we report a 44-year-old tuvinian woman with a family history of breast cancer. Based on the Ngs data, mutational analysis revealed the presence of the lrg_321t1: c.80c>t heterozygous variant in exon 2, which led to the proline to leucine change at codon 27 of the protein. In the dbpubmed database, this mutation was determined as unknown significance due to data limitation. According to the data of the activedriverdb tool, this mutation is located distally at the site of post-translational protein modification, which is responsible for binding to kinases that regulate genes of the cell cycle, etc. (atm, chek2, cdk, mapk). In accordance with proteinpaint tool, the lrg_321t1: c.80c>t mutation is located in functionally specialized transactivation domains and codon of the tp53 gene, where the pathogenic mutation associated with li-Fraumeni syndrome has been earlier described. Conclusion. This report is the first to describe a new variant in the tp53 gene (rs1555526933), which is likely to be associated with hereditary cancer-predisposing syndrome, including li-Fraumeni syndrome, in a tuvinian Bc patient with young-onset and familial Bc.

The purpose of the study was to evaluate the epidemiological aspects of the three major gynecologic cancers (cervical, endometrial and ovarian cancers) in Tomsk region. Material and methods. The data collected by the population-based cancer registry and the territorial body of the Federal State Statistics were analyzed. The epidemiological situation in Tomsk region between 2007 and 2015 was studied. Results. Gynecologic cancer is one of the most common cancers affecting women in Tomsk region. Cervical cancer is the 4-th most frequent cancer in Siberian Federal District. The incidence of gynecologic cancer has been steadily rising over time. Early diagnosis of endometrial and ovarian cancers remains a significant clinical challenge. The one-year mortality rate is still high. We recognize that unlike cervical cancer, screening benefits have not been shown for endometrial and ovarian cancer. To improve the specialized care for gynecological cancer patients, the screening programs in the region were approved.

Background. Colorectal cancer is the third most common cancer worldwide. The tendency towards increased incidence of colorectal cancer in Tomsk region correlates with World and Russian tendencies. The purpose of the study was to analyze the incidence rate of colorectal cancer in Tomsk region. Material and methods. The study was based on cancer register data collected at the Cancer Research Institute and Regional Cancer Center (Tomsk) and covered the period 2005 по 2015. Demographic data were obtained from local authorities and government statistics. Results. In Tomsk region, colorectal cancer is the second most common cancer. During the study period (2005–15), the incidence rate of colorectal cancer increased by 39.9 %. The highest incidence rates were observed in patients aged 55 years and older. The median age of patients diagnosed with colorectal cancer in 2015 was 56.3 years. The female and male median age showed a decreasing tendency. In 2015, the colorectal cancer incidence rate in both females and males was the highest among the territories included into the Siberian Federal Region, being 30.9 per 100,000. The rate then stabilized in females, but tended to increase in males. The cumulative risk of developing cancer among the population of Tomsk region had increased, being 7.9 in 2015 compared to 6.5 % in 2005. The cumulative risk of developing cancer was higher in males than in females (10.1 % versus 6.9 %). A specialized care to patients with colorectal cancer over a 10-year period has improved, however one-year mortality rate remains high. The study has shown that screening programs based on the detection of occult blood in the stool are not specific enough. Colonoscopy using high-resolution endoscopy and narrow beam imaging (NBI) are recommended to use as a screening method for the detection of precancerous diseases of the colon.

The purpose of the study was to estimate the medical care for cancer patients in the Amur region from 1999 to 2014. Material and methods. The study was based on cancer register data collected at the Oncology Dispensary of Amur region and covered the period 1999 to 2014. Results. Breast cancer is the most common cancer in women of the Amur region, accounting for 20.8 % of all cancer cases. In 2013, the breast cancer incidence rate was 52.8 per 100,000. The incidence rate for breast cancer increased by 36.4 % from 2003 to 2013, the overall rise being 2.2 %. The mortality rate decreased from 20.3 % in 2003 to 17.3 % in 2014. Cancer care in rural areas of the Amur region is worse than in Blagoveshchensk, which is the regional administrative center. The one-year mortality rate in rural areas is 1.3 times higher than that in the city. The one-year mortality rate is 1.3 times higher in rural areas than in the city, and is 1.2 times higher in the Amur region than in the Russian Federation. Conclusion. Appropriate treatment and prevention measures are recommended for further improvement of medical care for breast cancer patients in the Amur region.

The present study was undertaken to evaluate the incidence of pharyngeal cancer in the Tomsk region for the period between 2007 and 2015. Approximately 27 new cases of pharyngeal cancer are annually diagnosed in the region. Between 2007 and 2015, the pharyngeal cancer incidence in males was reported to be higher (80.9 %) than in females. The incidence rate of oropharyngeal cancer was 73.4 %. This incidence rate was not stable over time, and it was 2.2 per 100,000 population in 2015. In 2015, the pharyngeal cancer incidence in the Tomsk region was the highest in the Siberian Federal District (2.3 compared to 0.4) The pharyngeal cancer incidence was higher in rural than urban areas. High percentage of patients with advanced-stage disease and one-year mortality was registered in the region.

Tomsk region refers to the areas of increased risk of malignancies, including laryngeal and upper respiratory tract cancers, which account for 2.0 % of all cancer cases. Approximately 83 new cancer cases (70 % in males) are annually diagnosed, with a tendency to increase. In 2014, the standardized incidence rate of upper respiratory tract cancer (URTC) was 7.7 per 100,000 men and women. The incidence rate was 6.7 times higher in men than in women. Laryngeal cancer was the most common malignancy in both men (67.7 %) and women (60.0 %). The age-standardized mortality rate of laryngeal cancer was 2.7 per 100,000 of population. Among patients registered at the end of 2014, 1.1 % patients were diagnosed with laryngeal cancer and 0.3 % with pharyngeal cancer. The laryngeal cancer incidence in the Tomsk region was lower than that in the Russian Federation as a whole. The rates of laryngeal and pharyngeal cancer detection at prophylactic medical examinations remain low (5.9 % and 1.5 %, respectively), and 1-year lethality rates are high (65.2 % and 28.6 %, respectively). Introduction of the program on pre-cancer and early laryngeal cancer detection into routine clinical practice allowed us to identify diagnostic errors in 16.3% of cases, verify laryngeal cancer and to form groups at high risk for laryngeal cancer in 20.6 % of cases.

A case report on BRCA1-associated hereditary multiple primary breast and ovarian cancer has been presented. Platinum-containing chemotherapy resulted in favorable treatment outcomes.

Results of epidemiological study on kidney cancer incidence among the population of the Primorsky Krai are presented. Methods of mathematical statistics recommended by the Ministry of Public Health were used. Within the first 5 years of the period 1994 to 2008, thekidney cancer incidence rate increased from 8,3 0/0000 to 12,5 0/0000 in men and from 4,4 0/0000 to 6,6 0/0000 in women, being the 8th most common cancer in men and the 11th most common cancer in women. The highest incidence rate was observed at the age of 55–59 years. The kidney cancer incidence rate in children for the period 1994–2008 was 1,8 0/0000, reaching peak incidence at age 0–4. Kidney cancer is the third most common cancer following hemoblastosis and brain tumors in children of this age group.

Evaluation of cancer incidence in a certain area is one of the most important components of cancer control. From 1993 to 2012, a 1.4-fold increase in the annual number of new cancer cases among the population of Siberia and the Far East was registered. The age-standardized incidence rates are increasing with aging of the population. For all cancers, cancer incidence is higher in men than in women with the exception of thyroid and skin melanoma cancer incidence. Six types of cancer incidence curves have been identified: 1) reduction; 2) high growth; 3) relatively uniform growth; 4) reduction followed by stabilization; 5) growth followed by stabilization; 6) relatively uniform increase, then a significant increase.

During the period 2008–2011, esophageal cancer comprised 2,5 ± 0,2 % of all cases for males and 0,5 ± 0,1 % for females. Despite worldwide tendency towards decreased incidence of esophageal cancer, the rise in the age-standardized incidence rate was observed for both males and females of Tomsk region from 2000 to 2011. For males, the increase in both crude and age-standardized rates was registered. For females, the same tendency was observed in patients in the 50 to 64 age group.

Cancer incidence in the administrative centers of Siberia and the Russian Far East was first studied from1998 to 2012 years. Proportion of urban population ranged from 18.5 % in Kemerovo city to 56.0 % in Magadan city. During the study period, the incidence rate in the administrative centers of the region (259.1 ± 0.4 0/0000) was higher than in the whole region (233.0 ± 0.2 0/0000) (p

Cancer incidence among population of Norilsk city has been shown to be different from that of Russian Federation. Digestive system cancer is the most common form of cancer affecting men and reproductive system cancer is the leading cancer in women. Cancer incidence rates tend to increase reaching peak incidence in patients aged over 60 years. According to the study results, the automatic test program was suggested for forming groups at high risk for breast cancer

The review presents the worldwide data on the cancer incidence and mortality and risk factors for cancer.

Gastric cancer remains the most common cancer both worldwide and in the Russian Federation. Gastric cancer is the 3-rd most common cancer in men, comprising 9,1 % of all cancer cases and the 4-th most common cancer in women comprising 5,8 % of all cancer cases in Tomsk region in 2011. From 2000 to 2011, the crude and age-standardized gastric cancer incidence rates decreased by 13,4 % and 25,7 %, respectively in males and increased by 22,6 % and 11,1 %, respectively in females. In addition, the increase in gastric cancer incidence rate was observed in both male and female elderly population of Tomsk region.

From 1989 to 2013, demographic processes in the Republic of Buryatia were analyzed. Changes in the basic parameters of the population movement: births, deaths and migration were influenced by the sex and age structure of the population. The proportion of the Russians decreased from 69.9% in 1989 to 64.9% in 2010 and the number of the Buryats increased from 24.0 to 29.5%. With the increase in the proportion of residents over 60 years, a process of the aging of the population was observed. In 2000–2013, there was a positive dynamics of the natural movement of the population, the natural increase in /Т ёь9013 was 5,8 per 1000 persons. Migration population decline in the Republic of Buryatia keeps stable.

Worldwide prevalence of oncology diseases among children under 15 years old is relatively low — 8,4 on 100 000 of children population (), but they are one of the most common causes of mortality in this population. Aim: to assess epidemiologic aspects of oncology and oncological healthcare for Tomsk region children population aged less than 18 years old. Patients and methods: the assessment was performed for the period of time between 2004 and 2011 based on population cancer-registry and specialized documents using methods recommended by P.A. Gertsen Moscow Scientific Research Oncology Institute. Results: prevalence of malignant neoplasms was 12,4 in children aged under 15 years old and 12,1in children aged under 18 years old. In the structure of oncology diseases among children aged from 0 to 14 years old the most common was hemoblastosis (51,9%), in adolescents aged from 15 to 17 years old — solid tumors (65,9%). Mortality rate was 4,5with predominance of solid tumors (58,3%) Conclusions: the low degree of active and early detection of oncology diseases points out the poor efficiency of the management of specialized healthcare at the stage of primary diagnostics. The authors explain the necessity of the offered measures aimed at prevention of malignant neoplasms in children and improvement of monitoring of the patients with such diseases.

A cancer incidence in general and in its separate nosologic forms (stomach cancer, liver cancer, cancer of lung, skin cancer, breast cancer, cervical cancer, prostate cancer, thyroid gland cancer and hemoblastosis cancer) has been studied in the population of Tomsk and Tomsk region within 1990—2001 taking into account ages and sexes. The dynamics of the cancer incidence in general and in separate forms of malignant neoplasms has been cited and the prognosis of this process up to 2007 has been done. An analysis of the main risk factors has been made.

The main stages of vital way, scientific and educational activities of outstanding Tomsk scientist, academician of the Russian of Medical Sciences and academician of the Ukrainian Academy of Ecological Sciences have been presented. Nikolai Vladimirovich Vasilyev was the head of Tomsk School of immunologists. He contributed greatly to the development of non-infectious immunology, especially to oncoimmunology and ecologic immunology. His fundamental scientific developments and hypotheses continue to be the base for scientific investigations of his followers.