Antonio Márcio Teodoro Cordeiro Silva

Association of the TP53 codon 72 polymorphism and breast cancer risk: a meta-analysis

This study was conducted in order to investigate the implications of the R72P polymorphism in the TP53 gene in breast cancer risk. The enlightenment of this matter might provide a piece of information about the potential implications of this polymorphism in patient risk. A meta-analysis was conducted considering a large sample size from studies with conflicting results on the R72P polymorphism in breast cancer patients. Relevant studies were selected from PubMed and SciELO databases for data extraction and statistical analysis. Database was built according to the continent and considering the genotype frequencies, sample size and genotyping methodology. The dominant models (RR vs RP + PP and RR + RP vs. PP), homozygous (RR vs. PP), heterozygous (RR vs. RP and RP vs. PP) and the allele (R vs. P) were used. Genotype frequencies were summarized and evaluated by χ2 test of heterogeneity in 2×2 contingency tables with 95% CIs. Odds Ratios (OR) were calculated with a fixed-effect model (Mantel-Haenszel) or a random-effect model (DerSimonian-Laird) if the studies were considered homogeneous (P > 0.05) or heterogeneous (P < 0.05), respectively, using BioEstat® 5.0 software. Supported by a large sample size composed by 25,629 cases and 26,633 controls from 41 studies, we found significant association between the R72P polymorphism in the TP53 gene and the breast cancer risk. The overall data shows an increased risk due to the P allele dominant model, but not in Asia where the risk was associated with the R allele and R dominant model.

Polimorfismo do gene tp53 no códon 72 em pacientes com suspeita de LMC

Chronic myeloid leukemia (CML) is a proliferative disorder of the hematopoietic system characterized by clonal expansion of a primitive and pluripotent stem cell. In this type of leukemia, up to 90% of all cases is associated to a specific chromosomal translocation, t(9;22)(q34;q11). The genomic alteration results in a chimeric protein, BCR-ABL, that confers a high resistance leukemia cells to death, independent of the induction mechanism of this process. Protein p53 is a transcriptional factor expressed after DNA damage which ceases cell cycle progression and consequently activates repair mechanisms or even induces apoptosis. Mutations of TP53 are the most common genetic alterations in malignant tumors in humans. The main objective of the current study was to genotype and determine the allelic frequency of the TP53 polymorphism at codon 72 in patients suspected of having CML using a PCR-based assay. The frequencies of the genotypes among the cases were: 73.4% (2330) and 26% (730) for homozygous arginine (Arg-72) and heterozygous proline/arginine (Pro/Arg-72), respectively. Homozygous proline (Pro-72) was not observed in the current study. The results obtained suggest that the TP53 polymorphism at codon 72 is not an important risk factor for the initiation, promotion, nor progression of CML.

WITHDRAWN: Human papillomavirus detection and genotyping in squamous cell carcinomas of the larynx

Antonio Márcio Teodoro Cordeiro Silva a,b, Cesar Augusto Sam Tiago Vilanova-Costa a,b, Sheila Freires de Oliveira a, Cláudio Carlos da Silva a,c, Maria Paula Curado b, Aparecido Divino da Cruz a,b,c a Replicon Research Nucleus, Catholic University of Goias, Goiania, Brazil b Goiania’s Population-Based Cancer Registry, Association of Cancer Combat of Goias, Goiania, Goias, Brazil c Laboratory of Molecular Genetics and Human Cytogenetics – LaGene, Secretary of Health, Goiania, Goias, Brazil

Null polymorphisms in GSTT1 and GSTM1 genes and their associations with smoking and cervical cancer

Human Papillomavirus (HPV) infection is the main risk factor for cervical cancer. However, other risk factors include smoking and genetic susceptibility. Glutathione-S-Transferases (GST) is enzymes involved in tobacco carcinogens metabolism and genes encoding these enzymes are highly polymorphic. The objective of this study was to compare the frequencies of GSTM1 and GSTT1 null polymorphisms in women with cervical cancer and in a control group, as well as the possible associations between such polymorphisms, cigarette smoking and the prognosis of cervical cancer. The series comprised 135 cervical cancer patients and 100 women without cancer. Genotypes were investigated by using polymerase chain reaction (PCR). The results were compared using the Chi-square test or Fishers exact test, and survival analysis by Kaplan-Meier test and Log-rank. Among the cases, the frequency of GSTM1 gene null polymorphism was 22.2%, and for the GSTT1 gene it was 48.5%. Among the controls, the frequency of the GSTM1 gene null polymorphism was 45.0%, as for the GSTT1 it was 56.0%. Important association was demonstrated between smoking and cervical cancer (p=0.0062; OR=2.16). Differently from GSTM1, GSTT1 null polymorphism was not associated with cervical cancer risk in this study. GSTT1 null genotype was significantly associated to a worse prognosis. Overall survival rate for the cervical cancer group was 78.5% and, when stratified by genotypes, survival was higher in patients with positive genotypes, indicating a higher risk of death for those presenting dual nullity (p=0.031; RR=2.458).

Padrão de metástase no câncer de mama triplo negativo

Introduction: Triple negative breast cancers (TNBC) are clinically heterogeneous malignancies that do not present receptors of the estrogen, progesterone and HER2 (ERBB2 or NEU). TNBC are among the most aggressive and deadly breast cancer subtypes. Objective: The present study aimed to elucidate the metastatic pattern of TNBC and attempt to correlate it to age, histology, tumor grade, tumor size, and other clinicopathological variables. Methods: 140 clinical files of patients with breast cancer in Araújo Jorge Hospital in Goiânia (GO), during the period 1998-2010, were selected; among these, 75 cases (53.6%) with TNBC diagnosis were found. Results: The significant variables were tumor size (p=0.0497) and number of metastatic lymph nodes (p=0.002). During the period of five years of observation, metastatic disease occurred in over half of all patients (52.0%). The most common sites of recurrence were lung, bone, and brain. Conclusion: Our finds concluded that patients with TNBC feature a more aggressive type of tumor, requiring increased vigilance in the early years of follow-up. Trabalho realizado na Pontifícia Universidade Católica de Goiás (PUC-Goiás) – Goiânia (GO), Brasil. Departamento de Medicina da PUC-Goiás – Goiânia (GO), Brasil. Faculdade de Enfermagem da Universidade Federal de Goiás (UFG) – Goiânia (GO), Brasil. Programa de Pós-graduação em Ciências da Saúde da UFG – Goiânia (GO), Brasil. Laboratório de Oncogenética e Radiobiologia (DON), Laboratório de Transplante de Medula Óssea (TMO), Hospital Araújo Jorge (HAJ), Associação de Combate ao Câncer em Goiás (ACCG) – Goiânia (GO), Brasil. Programa de Pós-graduação em Ciências Ambientais e Saúde (MCAS) da PUC-Goiás – Goiânia (GO), Brasil. Endereço para correspondência: Antonio Márcio Teodoro Cordeiro Silva – Rua 227A, 72, apto. 301 – Setor Universitário – CEP: 74610-155 – Goiânia (GO), Brasil – E-mail: marciocmed@gmail.com Conflito de interesses: nada a declarar. Recebido em: 08/03/2016. Aceito em: 17/08/2016 DOI: 10.5327/Z201700010003RBM

Serological profiles for toxoplasmosis of patients attending in a clinical laboratory of Goiânia, Goiás

Objective: Toxoplasmosis is a parasitic infection spread worldwide caused by Toxoplasma gondii. The evolution of the disease in immunocompetent individuals is benign, however, pregnant women and immunocompromised require special attention with regard to the early diagnosis of the infection. These factors are higher for the risk of congenital of transmission and of serious manifestations, such as the cerebral toxoplasmosis. The objective of this study was to trace the serological profiles for toxoplasmosis of patients seen in a laboratory of Goiânia, Goiás, Brazil in the year 2013. Methods: This is a population study, epidemiological and cross-sectional conducted after approval of the Ethics Committee of the Faculdade União de Goyazes. We performed a retrospective analysis of data of 1476 patient charts with serological tests for the detection of IgG and IgM anti-T. gondii. The verified data were analyzed with the BioEstat program 5.3. Results: The analysis of serological profiles showed that 476 (32.2%) records have presented for immunity for T. gondii, 986 (66.8%) for susceptibility to the pathogen, and 14 (1%), suggesting phase of acute or recent infection. The percentage values of serological profi les for toxoplasmosis found in the study population showed an increased susceptibil ity to infection when compared with others study. Conclusion: Thus, it is important serological monitoring, especially pregnant women, so that in case of exposure to the parasite, vertical transmission is avoided, a situation which is related abortion or clinical manifestations in children with severe evolution after birth.