14 research outputs found

    Pan-cancer analysis of whole genomes

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    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

    Comparative study on the level of knowledge between licensed medical professionals working in public and private hospitals in Cavite regarding the Unang Yakap program of the Department of Health

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    This study specifically determined the level of knowledge of medical professionals (Obstetrician and Gynecologists, Pediatricians, nurses and midwives) both in private and public hospitals in Cavite regarding the Unang Yakap program of the Department of Health; compared the differences in the private and public hospitals knowledge of the Unang Yakap and identified the medical professionals source of knowledge about the said program using analytic – observational research. The study population included all medical professionals working in the private and public hospitals in Cavite. A total of 82 (32.8%) licensed medical professionals, where 34 (33.7)% individuals came from public hospitals and 48 (32.2%) came private sector have knowledge with regards to Unang Yakap . Simple random sampling was used to identify the respondents. A self-administered questionnaire was used as tool and data was analysed using standard deviation, frequency, percentage, and chi-square. There was no insufficient evidence to reject the claim that there is no difference in the level of knowledge of licensed medical professionals working in both public and private hospitals in Cavite. Variables including age, gender, profession and years of experience were significant determinants in having knowledge or not having knowledge in Unang Yakap
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