Cancer Incidence in Siberia and Russian Far East

Жуйкова, Л. Д.; Чойнзонов, Е. Л.; Ананина, О А; Одинцова, И. Н.

doi:10.21294/1814-4861-2019-18-6-5-11

Cited by 15 publications

(7 citation statements)

References 5 publications

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“…Racial/ ethnic minority individuals have a significant burden of cancer and limited access to genetic cancer risk assessments. A higher rate of increase in BC incidence and a younger age of first diagnosed BC in indigenous ethnic groups can be noted, which makes it relevant to search for BC associated mutations to improve the management of patients [1].…”

Section: Doi: 1032471/exp-oncology2312-8852vol-43-no-115587mentioning

confidence: 99%

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

et al. 2023

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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. We focused on Tuvan ethnic group to find specific genetic aberrations associated with BC. There are no BC prevention models as well as standards for the treatment of inherited BC in Tuvans. In this context, the search for genetic markers of early cancer detection and the development of criteria for therapy response are relevant. Aim: To identify hereditary mutations in BC-associated genes in Tuvan women. Materials and Methods: 24 patients with early-onset BC (range, 25 to 46 years) were enrolled in the study. Genomic DNA isolated from blood samples was used to prepare libraries using a capture-based target enrichment kit 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). Next-generation sequencing was performed using the Illumina NextSeq500 System. Results: In our study, one pathogenic mutation was detected in BRCA1 (rs80357868) gene (prevalence of 4%, 1/24). We identified the truncating 3875_3878delGTCT mutation of BRCA1 gene in Tuvans BC patient aged 34 years. We also detected three mutations that were probably damaging by PolyPhen2 and/or deleterious by SIFT in ATM (rs781023264), MUTYH (rs199840380) and RAD51D (rs145309168) genes. Conclusion: To the best of our knowledge, this is the first report that describes the highly pathogenic variant in the BRCA1 gene (rs80357868) and possibly damaging (PolyPhen2) germline variants in the ATM (rs781023264), MUTYH (rs199840380) and RAD51D (rs145309168) genes in young Tuvans BC patient.

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Section: Doi: 1032471/exp-oncology2312-8852vol-43-no-115587mentioning

confidence: 99%

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

et al. 2023

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“…В целом в мире, по данным ВОЗ, 5-летняя выживаемость равна 50-60%. Наилучшие показатели 5-летней выживаемости отмечены в США (84%), Австралии (73%), Японии (74%), в Европе этот показатель составляет 63-67% [1][2][3][4].…”

Section: результаты и обсуждениеunclassified

“…По данным WHO, в 2018 г. в мире было выявлено более 2 млн новых случаев заболевших РМЖ [1,2]. И этот же вид злокачественных новообразований (ЗНО) занимает второе место в структуре всех опухолей [1][2][3][4][5][6].…”

Section: Introductionunclassified

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The dynamics of the incidence of breast cancer in the Moscow region (2011–2018)

2020

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Introduction. Breast cancer is a serious medical and social challenge and the statistics around the world look daunting.Relevance. The incidence of breast cancer is increasing in most countries and this may be due to a number of reasons. First of all, it should be noted the improvement of diagnostic methods, in particular, mass mammographic screening, which allows detecting neoplasms at early stages, before the onset of clinical symptoms. As for mortality rates, in recent years, world statistics show a downward trend in rates.Goal. To analyze the incidence and mortality rates of breast cancer (BC) in the Moscow Region (MO) for the period from 2011 to 2018. The study of indicators in one of the regions of Russia – MO – is of great importance for determining and predicting the true needs of the population in specialized medical care.The purpose of the study was to analyze the incidence of breast cancer (breast cancer) in the Moscow Region (MO) for a period of time from 2011 to 2018.Materials and methods. Some data of the territorial cancer registry of the Ministry of Defense of the Russian Federation on the diagnosis and treatment of patients with breast cancer were used, which will make it possible to determine the needs of this cohort of patients in specialized care.Results. From 2011 to 2018, 26755 new cases of breast cancer were diagnosed in the Moscow Region. The analysis of the comparative stratification in breast cancer in the medical district made it possible to obtain statistically significant differences indicating an increase in the incidence in the period from 2015–2018 in comparison with the period of 2011–2014. The presented data also indicate a trend towards a decrease in the one-year mortality rate over 8 years: from 6.33% in 2011 to 5.32% in 2018. For the period from 2011 to 2018 (8 years) there is an increase in the number of patients with breast cancer who have been in the medical center under dispensary supervision for 5 years or more.Conclusions. Analysis of the data obtained on the indicators of morbidity and mortality from malignant neoplasms is of great importance for determining the needs of the population in specialized medical care.

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“…Cancer is the second most prevalent cause of mortality in the population of Russia (16.1%; 2017—15.9%), right after circulatory diseases (46.8%; 2017—47.3%), and followed by injuries and poisoning (7.9%; 2017—8.4%) [ 1 ]. Lung, laryngeal and oropharyngeal cancer are the most common nosologies in the structure of cancer incidence in the Russian Federation, and are associated with high disability and lethality rates.…”

Section: Introductionmentioning

confidence: 99%

Non-Invasive Diagnosis of Malignancies Based on the Analysis of Markers in Exhaled Air

et al. 2020

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Novel non-invasive methods for the diagnosis of malignancies should be effective for early diagnosis, reproducible, inexpensive, and independent from the human factor. Our aim was to establish the applicability of the non-invasive method, based on the analysis of air exhaled by patients who are at different stages of oropharyngeal, larynx and lung cancer. The diagnostic device includes semiconductor sensors capable of measuring the concentrations of gas components in exhaled air, with the high sensitivity of 1 ppm. The neural network uses signals from these sensors to perform classification and identify cancer patients. Prior to the diagnostic procedure of the non-invasive method, we clarified the extent and stage of the tumor according to current international standards and recommendations for the diagnosis of malignancies. The statistical dataset for neural network training and method validation included samples from 121 patients with the most common tumor localizations (lungs, oropharyngeal region and larynx). The largest number of cases (21 patients) were lung cancer, while the number of patients with oropharyngeal or laryngeal cancer varied from 1 to 9, depending on tumor localization (oropharyngeal, tongue, oral cavity, larynx and mucosa of the lower jaw). In the case of lung cancer, the parameters of the diagnostic device are determined as follows: sensitivity—95.24%, specificity—76.19%. For oropharyngeal cancer and laryngeal cancer, these parameters were 67.74% and 87.1%, respectively. This non-invasive method could lead to relevant medicinal findings and provide an opportunity for clinical utility and patient benefit upon early diagnosis of malignancies.

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Cancer Incidence in Siberia and Russian Far East

Cited by 15 publications

References 5 publications

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

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

The dynamics of the incidence of breast cancer in the Moscow region (2011–2018)

Non-Invasive Diagnosis of Malignancies Based on the Analysis of Markers in Exhaled Air

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