RESUMO
AIM: Colorectal cancer (CRC) is a major cause of cancer death worldwide. We examined temporal trends in death rates from colorectal cancer in Chile from 1983 to 2008. METHOD: We analysed the mortality database in Chile from 1983 to 2008. Cases were selected using ICD-9/10 codes. We calculated mortality rates per 100,000 inhabitants according to sex, age group and type of cancer - colon (CC) or rectal (RC). The rates were adjusted by a direct method using the WHO-2000 standard population. Time trends were assessed with Prais-Winsten regression models. RESULTS: There were 26,250 deaths from CRC (75.7% for CC). There was a higher frequency of deaths from CC (57.6%) in women than in men, who had a higher frequency of deaths from RC (51.3%). The crude CC mortality rate increased by 116% (from 3.6 to 7.8), while the overall RC rate increased by 71% (from 1.4 to 2.4). After adjusting for age, a significant increase in mortality rate was found for CC (coefficient 0.09, 95% CI 0.08-0.11, P < 0.001) and RC (coefficient 0.02, 95% CI 0.009-0.04, P = 0.002) in men. In women, this increase was significant for CC (coefficient 0.03, 95% CI 0.005-0.05; P = 0.02), but not for RC (coefficient -0.007, 95% CI -0.02 to 0.005, P = 0.23). CONCLUSION: The crude mortality rate from CRC has doubled in Chile in this period. After adjustment of mortality rates, it appears that much of this increase is due to the aging population. However, part of this increase could be explained by other factors.
Assuntos
Neoplasias do Colo/mortalidade , Países em Desenvolvimento/estatística & dados numéricos , Neoplasias Retais/mortalidade , Idoso , Idoso de 80 Anos ou mais , Chile/epidemiologia , Intervalos de Confiança , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , População Rural/estatística & dados numéricos , Fatores Sexuais , População Urbana/estatística & dados numéricosRESUMO
Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous melanocytic macules, gastrointestinal hamartomatous polyposis and an increased risk of various neoplasms. Germline mutations in the serine/threonine kinase 11 (STK11) gene have been identified as a cause for PJS. The aim of this study was to characterize the genotype of Chilean PJS patients. Mutation screening of 13 patients from eight PJS families was performed using a single strand conformation polymorphism analysis, DNA sequencing and multiplex ligation-dependent probe amplification assay. The breakpoints of the genomic rearrangements were assessed by a long-range polymerase chain reaction and sequencing. The results revealed the existence of seven different pathogenic mutations in STK11 gene in seven unrelated families, including three point mutations and four large genomic deletions. Three of these point mutations (43%, 3/7) may be considered as novel. Our results showed that a germline mutation is present in STK11 in 88% of probands fulfilling the diagnostic criteria of PJS. In this study, the combination of two different experimental approaches in the screening of the STK11 in PJS, led to a higher percentage of mutation detection.