Pan-cancer analysis of whole genomes

Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe

A saúde do trabalhador na concepção de acadêmicos de enfermagem

Neste estudo, de abordagem qualitativa, buscamos compreender a concepção do acadêmico de enfermagem do Curso de Enfermagem da Universidade Federal de Santa Catarina sobre saúde do trabalhador. Foram feitas três questões a vinte acadêmicos: O que entende por saúde do trabalhador? De que forma a enfermagem pode contribuir para a saúde do trabalhador? Qual a relação que existe entre trabalho e estilo de vida? Os resultados foram agrupados nos temas: concepções sobre saúde do trabalhador; papel da enfermagem no contexto da saúde do trabalhador; relação entre trabalho e estilo de vida. Destacamos a inter-relação entre trabalho e estilo de vida, e trabalho e saúde do trabalhador. As reflexões realizadas reforçam a necessidade dessa temática ser discutida nas universidades, para que os acadêmicos sejam estimulados a pensar sobre sua saúde desde o início da academia. Assim estimulados, acreditamos que possam incorporar ações de proteção voltadas a sua saúde no trabalho.In this paper, which uses a qualitative approach, we try to understand the conception undergraduate Nursing students at the Federal University of Santa Catarina have regarding worker’s health. Three questions were asked to twenty students: What does he/she understand as worker’s health? How can Nursing help to improve worker’s health? Which is the relation between work and lifestyle? The results were grouped in the following themes: conceptions of worker’s health; the role of Nursing in the context of worker’s health; and relation between work and lifestyle. We highlighted the interrelation between work and lifestyle, and between work and worker’s health. Our reflections reinforce the need to discuss these themes in the universities so that students are stimulated to think about their own health since the beginning of their academic life. That way, we believe that they will be able to incorporate protective actions to their own health in their daily’s work.En este papel, de abordaje cualitativo, intentamos entender el concepto del curso de enfermería de la Universidad Federal de Santa Catarina sobre la salud del trabajador. Fueron contestadas tres preguntas hechas a veinte académicos: ¿Cuál es tu comprensión sobre la salud del trabajador? ¿De qué forma la enfermería puede ayudar a mejorar la salud del trabajador? ¿Cuál es la relación entre el trabajo y el estilo de vida del trabajador? Los resultados habían sido organizados en forma de temas: conceptos sobre la salud del trabajador; carácter de la enfermería en el contexto de la salud del trabajador y relación entre trabajo y estilo de vida. Destacamos la interrelación entre trabajo y estilo de vida y trabajo con la salud del trabajador. El énfasis a las contemplaciones hechas refuerzan la necesidad que ese tema tiene para ser discutido en las universidades, así como, estimular a los académicos a pensar en su propia salud desde el principio del curso. De esa forma, creemos que puedan incorporar acciones a la protección de su salud en el trabajo