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- Dareng, EO, et al.
(författare)
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Polygenic risk modeling for prediction of epithelial ovarian cancer risk
- 2022
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Ingår i: European journal of human genetics : EJHG. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 30:3, s. 349-362
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Tidskriftsartikel (refereegranskat)abstract
- Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, “select and shrink for summary statistics” (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28–1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08–1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21–1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29–1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35–1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.
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- Tzortzakakis, A, et al.
(författare)
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Role of Radiology in the Preoperative Detection of Arterial Calcification and Celiac Trunk Stenosis and Its Association with Anastomotic Leakage Post Esophagectomy, an Up-to-Date Review of the Literature
- 2022
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Ingår i: Cancers. - : MDPI AG. - 2072-6694. ; 14:4
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Tidskriftsartikel (refereegranskat)abstract
- Surgical resection of the esophagus remains a critical component of the multimodal treatment of esophageal cancer. Anastomotic leakage (AL) is the most significant complication following esophagectomy, in terms of clinical implications. Identifying risk factors for AL is important for modifying patient management and improving surgical outcomes. This review aims to examine the role of radiological risk factors for AL after esophagectomy, and in particular, arterial calcification and celiac trunk stenosis. Eligible publications prior to 25 August 2021 were retrieved from Medline and Google Scholar using a predefined search algorithm. A total of 68 publications were identified, of which 9 original studies remained for in-depth analysis. The majority of these studies found correlations between calcifications in the aorta, celiac trunk, and right post-celiac arteries and AL following esophagectomy. Some studies suggest celiac trunk stenosis as a more appropriate surrogate. Our up-to-date review highlights the need for automated quantification of aortic calcifications, as well as the degree of celiac trunk stenosis in preoperative computed tomography in patients undergoing esophagectomy, to obtain robust and reproducible measurements that can be used for a definite correlation.
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