| 1. |
- Weinstein, John N., et al.
(författare)
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The cancer genome atlas pan-cancer analysis project
- 2013
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:10, s. 1113-1120
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Forskningsöversikt (refereegranskat)abstract
- The Cancer Genome Atlas (TCGA) Research Network has profiled and analyzed large numbers of human tumors to discover molecular aberrations at the DNA, RNA, protein and epigenetic levels. The resulting rich data provide a major opportunity to develop an integrated picture of commonalities, differences and emergent themes across tumor lineages. The Pan-Cancer initiative compares the first 12 tumor types profiled by TCGA. Analysis of the molecular aberrations and their functional roles across tumor types will teach us how to extend therapies effective in one cancer type to others with a similar genomic profile. © 2013 Nature America, Inc. All rights reserved.
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| 2. |
- Nicolas, Aude, et al.
(författare)
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene
- 2018
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Ingår i: Neuron. - : Cell Press. - 0896-6273 .- 1097-4199. ; 97:6, s. 1268-1283.e6
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Tidskriftsartikel (refereegranskat)abstract
- To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.
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| 3. |
- Heiman, Jenny, 1980, et al.
(författare)
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The effect of nonsupervised physical activity before and after breast cancer surgery on quality of life: Results from a randomized controlled trial (PhysSURG-B)
- 2022
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Ingår i: Scandinavian Journal of Surgery. - : SAGE Publications. - 1457-4969 .- 1799-7267. ; 111:4
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Tidskriftsartikel (refereegranskat)abstract
- Background and objective: The PhysSURG-B trial of prehabilitation before breast cancer surgery randomized patients to a nonsupervised physical activity or a control group. The effects of the intervention on short- and long-term quality of life (QoL) were examined, with a subgroup analysis of patients receiving adjuvant chemotherapy. Methods: Female patients planned for surgery were randomly assigned to either an intervention of 30 min of self-administered physical aerobic activity daily 2 weeks before and 4 weeks after surgery or control. QoL was assessed with questionnaires at baseline, 4 weeks and 12 months postoperatively using the instruments FACT-B, RAND-36, and EQ-VAS. Results: Of 354 included participants at 12 months after surgery, 287 were available for analysis. FACT- B scores at 4 weeks and 12 months showed no differences between intervention compared to control, odds ratio (OR) of 0.975 (95% confidence interval (CI) 0.636-1.495) and 0.883 (95% CI 0.581-1.342), respectively. There was no difference in EQ-VAS comparing intervention to control at 4 weeks and 12 months, respectively, OR 1.163 (95% CI 0.760-1.779) and 0.817 (95% CI 0.559-1.300). RAND-36 domains "role limitations due to physical health" and "pain" showed a decrease at 4 weeks in both groups, returning toward baseline at 12 months follow-up. The subgroup who received adjuvant chemotherapy had significantly lower QoL measured using FACT-B at 12 months compared to patients not receiving chemotherapy (OR 0.475; 95% CI 0.300-0.753). Conclusions: An intervention of non-supervised physical activity before and after surgery for breast cancer showed no effect on short or long-term QoL, compared to control.
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| 4. |
- Ullmark, Jenny Heiman, 1980, et al.
(författare)
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Sick leave and predictive factors for sick leave at 12 months after breast cancer surgery in the randomized controlled physical activity trial (PhysSURG-B)
- 2023
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Ingår i: Surgeon-Journal of the Royal Colleges of Surgeons of Edinburgh and Ireland. - : Elsevier BV. - 1479-666X. ; 21:5, s. E229-E237
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To evaluate sick leave 12 months after breast cancer surgery, to analyze the effect of adjuvant chemotherapy and to identify predictive factors for sick leave, based on a randomized controlled trial of a non-supervised physical activity intervention (PhysSURGB).Methods: Sick leave days (for patients age 18-67) were collected from the Swedish Social Insurance Agency, and compared between the intervention and control arm in the trial. A random forest model was used to analyze predictive factors for sick leave, including baseline patient and tumor characteristics as well as patient-reported outcomes measuring quality of life, personality traits, pain, anxiety and depression.Results: A total of 203 patients were analyzed, and when comparing intervention to control, there was no differences in sick leave days (117 vs 55 days, odds ratio 1.21; 95% CI 0.75 -1.96). Adjuvant chemotherapy significantly increased days of sick leave (323 vs 42 days, odds ratio 17.3; 95% CI 9.15-34.2). Factors predicting prolonged sick leave were adjuvant chemotherapy, young age, previous mental health problems and low quality of life (measured as FACT-B score) at baseline.Conclusion: A non-supervised physical activity intervention had no effect on sick leave 12 months after surgery. Significantly longer sick leave was seen in patients treated by adjuvant chemotherapy. Factors predicting prolonged sick leave can be recognized at baseline and utilized when designing future interventions.
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