ARTIGO ORIGINAL / ORIGINAL ARTICLE ARQGA/1200 INTRODUÇÃOAlterações genéticas têm papel decisivo no aparecimento de várias neoplasias humanas (2) . Na maioria, essas alterações genéticas ocorrem em uma única célula somática, que então se divide e continua se desenvolvendo até formar um câncer. Mais raramente, quando a neoplasia maligna ocorre como parte de uma síndrome de câncer hereditário, as alterações iniciais são herdadas por meio de linhagem germinativa e, portanto estão presentes em todas as células do organismo (15) .Mutações e polimorfismos são duas alterações genéticas freqüentes. As mutações são representadas pela substituição de bases, alterações na organização ou no tamanho das seqüências, incorporação do DNA extracromossômico e alterações anafásicas ou da citocinese. Essas alterações estão associadas à freqüência de alelos heterozigotos presentes em menos de 2% da população (1) . Os polimorfismos genéticos são variações na seqüência de DNA que podem criar ou destruir sítios de reconhecimento de enzimas de restrição e parecem estar associados a apenas uma base. A freqüência de alelos heterozigotos para o polimorfismo genético ocorre em mais de 2% da população. Algumas dessas alterações ocorrerão em seqüências não codificadoras do gene, que na maioria dos casos não terão efeito em suas funções; outras ocorrerão em seqüências codificadoras, levando à produção de proteínas defeituosas. Deste modo, em alguns casos o polimorfismo genético pode aumentar a suscetibilidade ao câncer (11) .Mundialmente, o câncer colorretal foi a quarta neoplasia mais incidente tanto no sexo masculino, quanto no feminino. A sobrevida global em 5 anos é de 60% e não são observadas diferenças significativas entre países desenvolvidos e em desenvolvimento. No Brasil, o câncer de cólon e reto é a quinta causa de morte no sexo masculino e a terceira no sexo feminino (5) , tendo-se observado aumento consistente de suas taxas de mortalidade ao longo das últimas décadas. ESTUDO DO POLIMORFISMO GENÉTICO NO GENE p53 (CÓDON 72) EM CÂNCER COLORRETAL
BACKGROUND: Colorectal cancer (CRC) is one of the leading causes of cancer worldwide. Early diagnostic methods using serum biomarkers are required. The study of omics, most recently lipidomics, has the purpose of analyzing lipids for a better understanding of human lipidoma. The evolution of mass spectrometry methods, such as MALDI-MS technology, has enabled the detection and identification of a wide variety of lipids with great potential to open new avenues for predictive and preventive medicine. OBJECTIVE: To determine the lipid profile of patients with colorectal cancer and polyps. METHODS: Patients with stage I-III CRC, adenomatous polyps and individuals with normal colonoscopy were selected. All patients underwent peripheral blood collection for lipid extraction. The samples were analyzed by MALDI-MS technique for lipid identification. STATISTICAL ANALYSIS: Univariate and multivariate (principal component analysis [PCA] and discriminant analysis by partial least squares [PLS-DA]) analyses workflows were applied to the dataset, using MetaboAnalyst 3.0 software. The ions were identified according to the class of lipids using the online database Lipid Maps (http://www.lipidmaps.org). RESULTS: We included 88 individuals, 40 with CRC, 12 with polyps and 32 controls. Boxplot analysis showed eight VIP ions in the three groups. Differences were observed between the cancer and control groups, as well as between cancer and polyp, but not between polyps and control. The polyketide (810.1) was the lipid represented in cancer and overrepresented in polyp and control. Among the patients with CRC we observed differences between lipids with lymph node invasion (N1-2) compared to those without lymph node invasion (N). CONCLUSION: Possible lipid biomarkers were identified among cancer patients compared to control and polyp groups. The polyketide lipid (810.1) was the best biomarker to differentiate the cancer group from control and polyp. We found no difference between the biomarkers in the polyp group in relation to the control.
Aims and background The enzyme cytochrome P450 plays an important role in the metabolization and detoxification of various compounds. CYP1A1 is a polymorphic enzyme and some of its alleles have been correlated with an increased risk of developing various types of cancer. The aim of this study was to investigate the incidence of the polymorphism A→G (Ile462Val, exon 7) in colorectal cancer patients and the correlation of this polymorphism with others risk factors. Patients and methods 114 Brazilian patients with colorectal cancer were matched by age and sex to 114 healthy individuals. DNA was extracted from peripheral blood and the genotypes of the polymorphisms were assessed by PCR-restriction fragment length polymorphism. Results In the case group 64 subjects were male, 53 were alcohol users and 68 were smokers. In the control group 61 were male, 67 were alcohol users and 53 smokers. There were 14 subjects with wild-type homozygous A/A, 97 with heterozygous A/G, and 3 with homozygous mutated G/G in the cancer group versus 81 subjects with wild-type homozygous A/A and 33 with heterozygous A/G in the control group. The presence of the G allele (OR 5.14, 95%CI 3.15–10.80) was associated with an increased risk of colorectal cancer (p=0.001). The prevalence of smokers was higher in the cancer group (p=0.047, OR 1.71, 95%CI 1.03–3.11). Conclusion These results suggest a positive association between the A→G polymorphism and the risk of colorectal cancer. In addition, smoking was also a colorectal cancer risk. We did not find any correlation between this polymorphism and sex, grade of differentiation, stage, or evolution of the disease.
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