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

Aktuellt kunskapsläge om spädbarnsmassage : systematisk litteraturöversikt 2006-2011

Aim: Reviewing the scientific literature 2006-2011 on infant massage. Background: The study is a follow-up of a literature review of studies on infant massage published 1995-2005, in which it was shown that infant massage has a favorable effect on weight gain, health, sleep and behavioral development in infants and on parental-infant interaction. Methods: A computer-aided search utilizing the Cochrane Central Register of Controlled Trials, Pubmed and CINAHL was conducted in January 2012, the MeSH term «infant massage», limited to clinical controlled trials (CCT) for infants aged 0-23 months, being employed. Findings: A total of 29 articles were found, concerning 1670 children altogether who satisfied the inclusion criteria, 18 of the studies concerning preterm infants. Results in five different areas are taken up: weight gain (n=8), analgesia (n=5), health (n=5), behavioral development (n=7) and depression prevention in mothers (4). Conclusions: No harmful effects of infant massage were reported. It was found to have positive effects on children's growth, health and behavioral development, and to have beneficial effects on the mothers' psychological well-being when they gave their children massage. It is concluded that parental education in infant massage is a cost-effective and health promoting measure