A clinical case of diagnosis of breast cancer in patients with family history of BRCA mutations 1.

BACKGROUND: The incidence of breast cancer is growing rapidly worldwide (1.7 million new cases and 600,000 deaths per year). Moreover, about 10% of breast cancer cases occur in young women under the age of 45. The aim of the study was to report a rare case of BRCA 1-mutated breast cancer in a young patient with multiple affected relatives. Breast cancer is due to a genetic predisposition with BRCA1 and BRCA2 representing a significant proportion of families with a very high risk of developing the disease over a lifetime of up to 50-80%. CASE PRESENTATION: In this paper we report a case of a 29-year-old woman with a confirmed diagnosis of left breast carcinoma. CONCLUSIONS: Mutations of the BRCA1 gene were revealed in the patient, in two of her sisters, brother and brother's daughter.

Gastric Cancer in Aktobe Region of Western Kazakhstan from 2009 to 2018: Incidence Rates, Trends, and Five-Year Survival.

OBJECTIVE: to assess the current state of gastric cancer (GC) incidence and its five-year survival across Aktobe region of western Kazakhstan from 2009 to 2018 by presenting key indicators and analyzing the most significant features. METHODS: Rough incidence rates (per 100,000) and average annual percent changes (aAPCs) were estimated for each age group at diagnosis with respect to gender, ethnicity, residence, the disease stages, tumor subsite, and histology type using linear regression analysis, including the prognostic index for 2019-2020. Overall five-year survival rates were estimated by the Kaplan-Meier method. RESULTS: Overall GC incidence increased from 19.2 to 29.3, and averaged 25.8 (R2 0.65) with aAPC of 3.2%, with a potential to further rise (30.4 by 2020, p<0.001). Non-cardia location (17.8, p<0.001, aAPC 6.4%) and intestinal type of the tumor (17.0, p<0.001, aAPC 7.35%) were predominant. The observed overall five-year survival rate was 28.4% (95% CI 24.5;32.3) with a median survival time of 8.0 months (95% CI 6.6;9.4). Groups aged 40-49 and ≥70 had the lowest rates (24.4% and 22.1%, respectively, log-rank p 0.008), but the youngest individuals (18-39 years) showed the shortest median survival time, 5.0 months after diagnosis at the survival rate of 29.4%. Resectional surgery contributed significantly to the median survival time, 23.0 months vs. 6.0 in non-operated patients (log-rank p<0.001). CONCLUSION: GC in Aktobe region was featured by growing incidence and unsatisfactory five-year survival rates. Indigenous males of 60-69 years old with intestinal histology type, as well as the youngest patients irrespective of their gender, ethnicity, and other characteristics were recognized as high risk groups. Besides, relatively high aAPC 5.1% in the youngest revealed their further expected vulnerability. Further research is suggested to focus on risk factors, including gene expression profiling, to find out an accessible preventive strategy.
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Trends in colorectal cancer incidence in western Kazakhstan through the first decade of the screening implementation, 2009-2018 / Tendências na incidência do câncer colorretal no Cazaquistão ocidental durante a primeira década da implementação do rastreamento, 2009-2018

Abstract Introduction The study is aimed to outline the vector of colorectal cancer incidence in the industrial Aktobe province of western Kazakhstan through the first decade of the screening implementation, 2009-2018. Methods Rough incidence rates and annual percent changes were estimated for each age group at diagnosis, ethnicities, gender, residences, the disease stages and anatomic subsites (total N 1128) via regression analysis. Results Within 2009-2018 colorectal cancer rates increased from 14.74 to 23.19, with annual percent changes of 4.69%. The most significant growth was traced in men compared to women, up to 28.39 by 2018, with annual percent changes 6.64% vs. 2.64% (p = 0.0009). Annual percent changes in Kazakhs reached 8.7%, whereas Slavic groups showed decline in the incidence, annual percent changes −4.3% (p = 0.002). Declining in rates was also observed in urban population compared to rural one, annual percent changes −3.3% vs. 17.6%, respectively. Patients aged 60-69 made 31% of all cases and showed the largest annual percent changes 9.37% (p = 0.002). Patients at Stage II made 61% of all observations, but general trend evidenced sharp growth in the group of Stage I (annual percent changes 28.91%, p < 0.0001). Conclusion Overall, during the last decade colorectal cancer incidence increased 1.5 fold with expected further rise. However, the increment of Stage I portion by 2018 vs. advanced stages at diagnosis and the trend to decrease in rates among urban population inspire a definite assurance in potential efficiency of the screening program in long run. The next researches on colorectal cancer should include scenarios to reveal the role of disadvantaged environment in the region and consuming unhealthy ultra-processed food.

Resumo Introdução O objetivo do estudo é delinear o vetor da incidência do câncer colorretal na província industrial de Aktobe, no oeste do Cazaquistão, durante a primeira década da implementação do rastreamento, 2009‒2018. Métodos Taxas de incidência brutas e alterações percentuais anuais foram estimadas para cada faixa etária ao diagnóstico, etnias, sexo, residências, estágios da doença e localizações anatômicas (N total de 1.128) através da análise de regressão. Resultados Entre 2009‒2018, as taxas de câncer colorretal aumentaram de 14,74 para 23,19, com alteração percentual anual de 4,69%. O crescimento mais significativo foi evidenciado em homens em comparação com as mulheres, até 28,39 em 2018, com alterações percentuais anuais de 6,64% contra 2,64% (p = 0,0009). Alterações percentuais anuais nos cazaques atingiu 8,7%, enquanto os grupos eslavos mostraram declínio na incidência, alterações percentuais anuais -4,3% (p = 0.002). O declínio nas taxas também foi observado na população urbana em comparação com a rural, alterações percentuais anuais -3,3% vs. 17,6%, respectivamente. Pacientes com idade entre 60‒69 anos eram 31% de todos os casos e apresentaram as maiores alterações percentuais anuais 9,37% (p = 0,002). Os pacientes no Estágio II eram 61% de todas as observações, mas a tendência geral evidenciou crescimento acentuado no grupo do Estágio I (alterações percentuais anuais 28.91%; p < 0,0001). Conclusão No geral, durante a última década, a incidência de câncer colorretal aumentou 1,5 vezes com expectativa de maior aumento. No entanto, o incremento da porção do Estágio I em 2018 em comparação com os estágios avançados no momento do diagnóstico e a tendência de diminuição nas taxas entre a população urbana inspira uma garantia definitiva de eficiência potencial do programa de rastreamento em longo prazo. As próximas pesquisas sobre o câncer colorretal devem incluir cenários para revelar o papel do ambiente desfavorecido na região e o consumo de alimentos ultraprocessados não saudáveis.