Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51–69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan–Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.

Médico epidemiólogo clínico, c Médico salubrista. ResumenIntroducción: La emigración médica en el Perú supone un importante problema en la búsqueda de la consolidación de un sistema de salud sostenible. Objetivos: Estimar la prevalencia de intención de emigración y sus factores asociados según género en médicos peruanos recién egresados. Diseño y lugar de estudio: Estudio analítico de corte transversal llevado a cabo en Lima, Perú, durante el año 2010. Participantes: Se incluyó a 289 médicos egresados de universidades de peruanas. Intervenciones: Se aplicó una encuesta anónima y autoadministrada que evaluaba la intención de emigración para laborar y sus factores asociados. Los datos fueron analizados con el paquete estadístico STATA 11.2; se utilizó un modelo lineal generalizado log-binomial como método de regresión de múltiples variables. Principales medidas de resultados: Intención de emigración autorreportada. Resultados: La prevalencia de intención de emigración fue de 42,1%; esta fue mayor en el género masculino (50,0% versus 36,4%; p<0,01). Un manejo intermedio/avanzado del idioma inglés (RP: 1,77; IC95%: 1,04 a 2,98) y expectativas de ingreso económico mayor o igual a 3 600 dólares americanos mensuales en los siguientes cinco años (RP: 1,55; IC95%: 1,09 a 2,21) se encontraron asociados con la intención de emigrar en varones. En mujeres, estuvieron asociados el haber culminado la carrera sin retraso (RP: 1,66; IC95%: 1,02 a 2,71) y proyectarse a ganar 3 600 dólares o más (RP: 1,71; IC95%: 1,14 a 2,57). Conclusiones: Existe una alta prevalencia de intención en emigración médica; el factor económico se asocia independientemente; los idiomas y la regularidad académica difieren según género. Palabras clave: Migración internacional; salarios y beneficios; recursos humanos; médicos (Fuente: DeCS BIREME). Abstract Introduction: Medical emigration is a really important problem for Peru in order to consolidate a sustainable health system. Objectives: To determine the prevalence of emigration intention and associated factors according to gender in recently Peruvian graduated physicians. Design and setting: Cross-sectional, analytic study developed in Lima, Peru in 2010. Participants: Two hundred eightynine recently graduated physicians from Peruvian universities were included. Interventions: An anonymous and auto-administered questionnaire was handed to the study subjects to measure their intention to work abroad. Data was analyzed using the statistical package STATA 11.2, and a log-binomial generalized lineal model was used as regression model for multiple variables. Main outcome measures: Self-reported emigration intention. Results: Prevalence of intended emigration was 42.1%, higher in males (50.0% versus 36.4%; p<0.01). For males, an intermediate/advanced level of English proficiency (PR=1.77; 95%CI: 1.04-2.98) and a monthly income expectation greater than or equal to 3600 U.S. dollars in five years (PR=1.55; 95%CI: 1.09-2.21) were associated with the intention of emigrating. In women there was association with ...

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Recently, biallelic germline variants of the DNA glycosylase genes MUTYH and NTHL1 were linked to polyposis susceptibility. Significant fractions remain without a molecular explanation, warranting searches for underlying causes. We used exome sequencing to investigate clinically well-defined adenomatous polyposis cases and families from Finland (N=34), Chile (N=21), and Argentina (N=12), all with known susceptibility genes excluded. Nine index cases (13%) revealed germline variants with proven or possible pathogenicity in the DNA glycosylase genes, involving NEIL1 (mono- or biallelic) in 3 cases, MUTYH (monoallelic) in 3 cases, NTHL1 (biallelic) in 1 case, and OGG1 (monoallelic) in 2 cases. NTHL1 was affected with the well-established, pathogenic c.268C&gt;T, p.(Gln90Ter) variant. A recurrent heterozygous NEIL1 c.506G&gt;A, p.(Gly169Asp) variant was observed in two families. In a Finnish family, the variant occurred in trans with a truncating NEIL1 variant (c.821delT). In an Argentine family, the variant co-occurred with a genomic deletion of exons 2 – 11 of PMS2. Mutational signatures in tumor tissues complied with biological functions reported for NEIL1. Our results suggest that germline variants in DNA glycosylase genes may occur in a non-negligible proportion of unexplained colon polyposis cases and may predispose to tumor development.