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- Niemi, MEK, et al.
(författare)
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- 2021
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swepub:Mat__t
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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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- Orhan, K, et al.
(författare)
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Estimation of the radiation dose for dental spectral cone-beam CT
- 2021
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Ingår i: Dento maxillo facial radiology. - : British Institute of Radiology. - 0250-832X. ; 50:5, s. 20200372-
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Tidskriftsartikel (refereegranskat)abstract
- The purpose of this study was to estimate the radiation dose for a dental spectral cone-beam CT (SCBCT) unit at different scanning parameters. Methods: Radiation dose measurements were performed for a commercially available dental SCBCT. Scans were obtained at different exposure times and fields of view (FOV), both for non-spectral (25×18 cm, 14×18 cm, 14×12 cm, 9×9 cm, 6×6 cm) and spectral modes (14×18 cm, 14×12 cm, 9×9 cm, 6×6 cm) with the tube voltage alternating between 80 and 110 kV for spectral mode, and fixed at 110 kV for non-spectral mode. An ion chamber was used for air kerma and dose area product (DAP) measurements. The effective dose was estimated based on the mAs using previously published logarithmic curves for CBCT units with a similar X-ray spectrum. Results: The adult effective dose, in non-spectral mode, was 44-269 µSv for small FOVs, 131-336 µSv for the medium FOV, and 163-476 µSv for the large FOV. In spectral mode, the estimated adult effective doses were 96-206 µSv for small, 299 µSv for medium and 372 µSv for large FOV protocols. Paediatric effective doses were estimated to be 75% higher than corresponding adult doses. Conclusion: SCBCT showed comparable doses with other CBCT devices, but DAP values were generally above currently published DRLs. Spectral imaging might allow for artefact reduction at comparable dose levels, which should be assessed in further image quality studies at both a technical and diagnostic levels.
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- Thomas, M, et al.
(författare)
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Combining Asian-European Genome-Wide Association Studies of Colorectal Cancer Improves Risk Prediction Across Race and Ethnicity
- 2023
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Ingår i: medRxiv : the preprint server for health sciences. - : Cold Spring Harbor Laboratory.
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Polygenic risk scores (PRS) have great potential to guide precision colorectal cancer (CRC) prevention by identifying those at higher risk to undertake targeted screening. However, current PRS using European ancestry data have sub-optimal performance in non-European ancestry populations, limiting their utility among these populations. Towards addressing this deficiency, we expanded PRS development for CRC by incorporating Asian ancestry data (21,731 cases; 47,444 controls) into European ancestry training datasets (78,473 cases; 107,143 controls). The AUC estimates (95% CI) of PRS were 0.63(0.62-0.64), 0.59(0.57-0.61), 0.62(0.60-0.63), and 0.65(0.63-0.66) in independent datasets including 1,681-3,651 cases and 8,696-115,105 controls of Asian, Black/African American, Latinx/Hispanic, and non-Hispanic White, respectively. They were significantly better than the European-centric PRS in all four major US racial and ethnic groups (p-values<0.05). Further inclusion of non-European ancestry populations, especially Black/African American and Latinx/Hispanic, is needed to improve the risk prediction and enhance equity in applying PRS in clinical practice.
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| 27. |
- Thomas, HS, et al.
(författare)
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- 2019
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swepub:Mat__t
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| 28. |
- Glasbey, JC, et al.
(författare)
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- 2021
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swepub:Mat__t
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