Ancestry and self-reported race in Brazilian breast cancer women.

OBJECTIVE: This study aimed to evaluate the association between self-reported race/color and ancestry in Brazilian patients with breast cancer. METHODS: This was an observational, transversal, epidemiological study, evaluating race and ancestry in 1,127 patients with breast cancer. For genetic ancestry, a 46-AIM-INDEL panel was used. The ancestral profile was evaluated with the Structure v.2.3.3 software. Descriptive statistics were performed. To assess differences between race and ancestry, an analysis of variance with Bonferoni adjustment was used. RESULTS: The race distribution was 77.7% white, 17.6% brown, 4.1% black, 0.4% yellow, and 0.3% cafuse. The African ancestry proportion was significantly (p<0.001) more evident in black [0.63±0.21 (0.17-0.96)], followed by brown [0.25±0.16 (0.02-0.70)], and less frequent in white skin color. The European ancestry proportion was significantly (p<0.001) higher in white [0.72±0.17 (0.02-0.97)], followed by brown [0.57±0.19 (0.12-0.92)], yellow [0.27±0.31 (0.12-0.620], and black [0.24±0.19 (0.02-0.72)]. The Asiatic ancestry proportion is significantly (p<0.001) higher in yellow [0.48±0.51 (0.04-0.93)]. The Amerindian ancestry proportion frequency was the least frequent in all groups, and cafuse patients did not express differences between all race groups. The brown race group presented differences in African and European ancestry. CONCLUSION: Although we found many similarities between white European ancestry, black African ancestry, and yellow Asian ancestry, there is great miscegenation between patients. Although they can be labeled as having one race, they do present many ancestral genes that would allow their inclusion in another race group.

Genetic Ancestry of 1127 Brazilian Breast Cancer Patients and Its Correlation With Molecular Subtype and Geographic Region.

PURPOSE: Breast cancer molecular subtypes show significant differences in different ethnic groups in the United States, but no study has evaluated genetic ancestry in breast cancer in Brazilian women. METHODS: Breast cancer patients from distinct parts of Brazil were evaluated. Molecular subtypes were determined by immunohistochemistry. Genetic ancestry was evaluated using a panel of 46 AIMs (ancestry informative markers), which classified genetic ancestry as European, African, Asian, and Amerindian. PCR products were subjected to capillary electrophoresis and analyzed using GeneMapper 4.0 software. Ancestry was evaluated with Structure v.2.3.3 software. Ancestry was tested for correlations with geographic region and molecular subtype. The chi-square test and ANOVA with Bonferroni adjustment were applied. RESULTS: Genetic ancestry and clinical data were evaluated in 1127 patients. Higher rates of self-reported white ethnicity, European ancestry, and HER-2- luminal tumors were identified in the South region, which may influence age at diagnosis and result in a higher rate of early tumors. Conversely, higher rates of African ancestry in the North and Northeast regions, self-reported nonwhite ethnicity, HER-2+ tumors, and triple-negative tumors were noted. Triple-negative and HER-2+ tumors were associated with higher advanced and metastatic disease rates at diagnosis, with triple-negative tumors being more frequent in young women. CONCLUSION: Differences in genetic ancestry, self-reported ethnicity, and molecular subtype were found between Brazilian demographic regions. Knowledge of these features may contribute to a better understanding of age at diagnosis and the molecular distribution of breast cancer in Brazil.

Disruptive and Truncating TP53 Mutations Are Associated with African-Ancestry and Worse Prognosis in Brazilian Patients with Lung Adenocarcinoma.

INTRODUCTION: TP53 is the most frequently mutated gene in lung tumors, but its prognostic role in admixed populations, such as Brazilians, remains unclear. In this study, we aimed to evaluate the frequency and clinicopathological impact of TP53 mutations in non-small cell lung cancer (NSCLC) patients in Brazil. METHODS: We analyzed 446 NSCLC patients from Barretos Cancer Hospital. TP53 mutational status was evaluated through targeted next-generation sequencing (NGS) and the variants were biologically classified as disruptive/nondisruptive and as truncating/nontruncating. We also assessed genetic ancestry using 46 ancestry-informative markers. Analysis of lung adenocarcinomas from the cBioportal dataset was performed. We further examined associations of TP53 mutations with patients' clinicopathological features. RESULTS: TP53 mutations were detected in 64.3% (n = 287/446) of NSCLC cases, with a prevalence of 60.4% (n = 221/366) in lung adenocarcinomas. TP53 mutations were associated with brain metastasis at diagnosis, tobacco consumption, and higher African ancestry. Disruptive and truncating mutations were associated with a younger age at diagnosis. Additionally, cBioportal dataset revealed that TP53 mutations were associated with younger age and Black skin color. Patients harboring disruptive/truncating TP53 mutations had worse overall survival than nondisruptive/nontruncating and wild-type patients. CONCLUSION: TP53 mutations are common in Brazilian lung adenocarcinomas, and their biological characterization as disruptive and truncating mutations is associated with African ancestry and shorter overall survival.

Comitê de ética em pesquisa envolvendo experimentaçäo animal da Universidade Paranaense - CEPEEA/UNIPAR / Ethical committee for animal research of Universidade Paranaense - CEPEEA/UNIPAR

A busca por um desenvolvimento científico eticamente justificável e apropriado, levou o Instituto de Pesquisa e Ambiência Científica-IPEAC, da Universidade Paranaense-UNIPAR, a discutir o assunto e instituir um Comitê de Ética em Pesquisa Envolvendo Experimentaçäo Animal(CEPEEA). O CEPEEA é um órgäo assessor do IPEAC e responsável pelo acompanhamento das atividades que envolvam a utilizaçäo de animais no âmbito da UNIPAR. Tem por finalidade analisar, emitir pareceres e expedir certificados à luz dos princípios éticos na experimentaçäo animal exarados pelo Colégio Brasileiro de Experimentaçäo Animal (COBEA), sobre protocolos de experimentaçäo que envolvam uso de animais, bem como fiscalizar o cumprimento de um regulamento próprio, o que levou o CEPEEA à elaboraçäo de orientaçöes para o uso de animais em experimentaçäo. O CEPEEA também avalia trabalhos científicos encaminhados para o periódico Arquivos de Ciências Veterinárias e Zoologia da UNIPAR (ISSN 1415-8167)

Number and size of myenteric neurons of the duodenum of adult rats with acute diabetes

This study had as its purpose to assess the effects of acute diabetes induced by streptozotocin (35 mg/kg body weight) on the number and size of the myenteric neurons of the duodenum of adult rats considering equally the antimesenteric and intermediate regions of the intestinal circunference. Experimental period extended for a week. Neuronal counts were carried out on the same number of fields of both regions of the duodenal circunference and measurements of neuronal and nuclear areas on equal numbers of cells. Number and size of the myenteric neurons stained with Giensa were not significantly different between groups. On the other hand, the proportion of NADH-positive neurons increased from 18.54 per cent on the controls to 39.33 per cent on the diabetics. The authors discuss that this increased reactivity probably results from a greater NADH/NAD* ratio, described in many tissues of diabetic animals, which has consequences on the modulation of the enzymes that use these cofactors and whose activity is detected by the NADH-diaphorase technique.

Neuron number in the myenteric plexus of the ascending colon of rats

We carried out this study with the purpose of comparing the neuronal density in antimesocolic and intermediate regions of the colon of rats. We used the ascending colon of ten seven-months of Wistar rats. With the Giemsa method we found 29046 neurons/cm2 on the antimesocolic region and 30968 neurons/cm2 on the intermediate regions. With the NADH-diaphorase technique 12308 neurons/cm2 on the antimesocolic regions and 8798 neurons/cm2 on the intermediate regions were evidenced. The number of NADH-diaphorase positive neurons is significantly less than the number of Giemsa-stained neurons, and that this difference is enhanced on the intermediate regions of the intestinal circumference. Therefore, to compared the number of neurons of an intestinal segment of a same species at the same age, it is necessary to take into consideration the technique employed and the region of the intestinal circumference from where the sample was obtained.