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- Campbell, PJ, et al.
(författare)
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Pan-cancer analysis of whole genomes
- 2020
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Tidskriftsartikel (refereegranskat)abstract
- Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale1–3. 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 promoter4; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation5,6; analyses timings and patterns of tumour evolution7; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity8,9; and evaluates a range of more-specialized features of cancer genomes8,10–18.
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- Feng, RM, et al.
(författare)
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Leukocyte and Platelet Related Inflammatory Indicators and Risk of Carotid and Femoral Plaques: A Population-Based Cross-Sectional Study in Southeast China
- 2024
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Ingår i: Angiology. - : SAGE Publications. - 1940-1574 .- 0003-3197. ; 75:1, s. 79-89
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Tidskriftsartikel (refereegranskat)abstract
- The associations between several blood inflammatory indicators and risk of vascular plaques remain inconclusive. A total of 4596 native rural residents in Southeast China were enrolled from the Fuqing cohort study. Blood cell counts and their composite indexes including the neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and 2 novel indicators (systemic immune inflammation index (SII) and systemic immune inflammation response index (SIRI)) were considered as inflammatory indicators. Common carotid and femoral intima-media thickness (IMT) and plaques were assessed using B-mode ultrasound. Unconditional or multinomial logistic regression was used to evaluate potential associations. The prevalence of multiple femoral plaques (defined as IMT ≥1.5 mm) was significantly higher among participants with the highest tertile of total leukocyte count (odds ratio, 1.78), neutrophil count (1.88), monocyte count (2.51), platelet count (1.68), NLR (1.93), PLR (1.57), SII (2.10), and SIRI (2.94). Higher levels of neutrophil count, platelet count, NLR, and SII were also found to have significant linear dose-response relationships with the prevalence of stenosis, especially in femoral arteries. In conclusion, several blood inflammatory biomarkers may contribute to, or are associated with, the presence of IMT ≥1.5 mm or stenosis especially in femoral arteries.
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