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- Bravo, L, et al.
(author)
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- 2021
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swepub:Mat__t
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| 5. |
- Tabiri, S, et al.
(author)
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- 2021
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swepub:Mat__t
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| 6. |
- Campbell, PJ, et al.
(author)
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Pan-cancer analysis of whole genomes
- 2020
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In: Nature. - : Springer Science and Business Media LLC. - 1476-4687 .- 0028-0836. ; 578:7793, s. 82-
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Journal article (peer-reviewed)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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| 7. |
- Glasbey, JC, et al.
(author)
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- 2021
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swepub:Mat__t
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- Niemi, MEK, et al.
(author)
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- 2021
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swepub:Mat__t
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- Therrien, AS, et al.
(author)
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Relationships between Prenatal Distress and Infant Body Mass Index in the First Year of Life in a Lower-Middle Income Country
- 2020
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In: International journal of environmental research and public health. - : MDPI AG. - 1660-4601. ; 17:19
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Journal article (peer-reviewed)abstract
- Prenatal stress affects body composition in childhood and later in life. However, few studies assess body composition in infancy. Furthermore, most are in high-income countries and do not consider interactive or curvilinear relationships. We assessed distress and diet during pregnancy via questionnaires among 310 women in Vanuatu, a lower-middle income country. We measured body mass index (BMI) among 54 infants at 4–12 months of age. We analyzed interactive relationships between prenatal distress and diet with BMI Z-scores, and curvilinear relationships between distress and BMI Z-scores. There were no direct linear or interactive relationships between prenatal distress or diet with BMI Z-scores. We observed curvilinear relationships between prenatal distress and BMI Z-scores (p = 0.008), explaining 13.3 percent of unique variance. Results highlight that relationships between prenatal stress and body composition are evident in infancy but might not be detected if only linear relationships are assessed. Analyses in more diverse samples might help to explain inconsistencies in past studies.
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