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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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- Rowe, SL, et al.
(författare)
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Impact of borderline personality disorder on bulimia nervosa
- 2008
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Ingår i: The Australian and New Zealand journal of psychiatry. - : SAGE Publications. - 1440-1614 .- 0004-8674. ; 42:12, s. 1021-1029
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Tidskriftsartikel (refereegranskat)abstract
- Objective: The primary aim of the present study was to examine whether the presence of borderline personality disorder (BPD) adversely impacted on outcome 3 years after treatment among women with bulimia nervosa (BN), in comparison to those women with either other personality disorders (other PD) or no personality disorder (no PD). Method: Participants were 134 women who received cognitive behaviour therapy for BN. The sample was divided into three groups: BPD (n=38), other PD (n=37), and no PD (n=59). Eating disorder (ED) symptoms and attitudes, and personality traits were examined at pretreatment assessment, 1 year and 3 year follow up. Results: At pretreatment assessment the BPD group had higher purging frequency, more comorbidity and poorer general functioning than the other PD and no PD groups. By 3 year follow up, however, no significant differences were found in ED symptomatology and general functioning among the groups. Pretreatment differences between the BPD and no PD groups on the personality measures of harm avoidance, self-directedness and cooperativeness disappeared over the course of 3 years. Conclusion: Although women with BN and comorbid BPD appear more impaired at pretreatment assessment, they do not have poorer outcome than the other PD and no PD groups. The rate and level of improvement across the groups is not affected by the presence of BPD.
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