There is a growing need to develop novel therapeutics for targeted treatment of cancer. The prerequisite to success is the knowledge about which types of molecular alterations are predominantly driving tumorigenesis. To shed light onto this subject, we have utilized the largest database of human cancer mutations-TCGA PanCanAtlas, multiple established algorithms for cancer driver prediction (2020plus, CHASMplus, CompositeDriver, dNdScv, DriverNet, HotMAPS, OncodriveCLUSTL, OncodriveFML) and developed four novel computational pipelines: SNADRIF (Single Nucleotide Alteration DRIver Finder), GECNAV (Gene Expression-based Copy Number Alteration Validator), ANDRIF (ANeuploidy DRIver Finder) and PALDRIC (PAtient-Level DRIver Classifier). A unified workflow integrating all these pipelines, algorithms and datasets at cohort and patient levels was created. We have found that there are on average 12 driver events per tumour, of which 0.6 are single nucleotide alterations (SNAs) in oncogenes, 1.5 are amplifications of oncogenes, 1.2 are SNAs in tumour suppressors, 2.1 are deletions of tumour suppressors, 1.5 are driver chromosome losses, 1 is a driver chromosome gain, 2 are driver chromosome arm losses, and 1.5 are driver chromosome arm gains. The average number of driver events per tumour increases with age (from 7 to 15) and cancer stage (from 10 to 15) and varies strongly between cancer types (from 1 to 24). Patients with 1 and 7 driver events per tumour are the most frequent, and there are very few patients with more than 40 events. In tumours having only one driver event, this event is most often an SNA in an oncogene. However, with increasing number of driver events per tumour, the contribution of SNAs decreases, whereas the contribution of copy-number alterations and aneuploidy events increases.
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http://dx.doi.org/10.1371/journal.pgen.1009996 | DOI Listing |
Phys Rev Lett
December 2024
Deutsches Elektronen-Synchrotron DESY, Notkestrasse 85, 22607 Hamburg, Germany.
Linear colliders rely on high-quality flat beams to achieve the desired event rate while avoiding potentially deleterious beamstrahlung effects. Here, we show that flat beams in plasma accelerators can be subject to quality degradation due to emittance mixing. This effect occurs when the beam particles' betatron oscillations in a nonlinearly coupled wakefield become resonant in the horizontal and vertical planes.
View Article and Find Full Text PDFJ Allergy Clin Immunol Glob
February 2025
Division of Gastroenterology, Department of Surgery, Oncology and Gastroenterology, University of Padua, Padua, Italy.
Background: Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder marked by eosinophilic infiltration of the esophageal mucosa. Despite advances in understanding and management, optimal therapeutic strategies remain unclear, with conflicting guidelines.
Objective: We sought to evaluate effectiveness and safety of topical corticosteroids (TCSs) and proton pump inhibitors (PPIs) in managing EoE and their economic implications in Italy.
Sci Rep
January 2025
College of Pharmacy, Gansu University of Chinese Medicine, Lanzhou, 730000, PR China.
Climate change is shifting optimal habitats for medicinal plants, potentially compromising the efficacy and therapeutic value of herbal remedies. Global warming and increased extreme weather events threaten the sustainability and pharmaceutical integrity of Angelica sinensis (Oliv.) Diels (A.
View Article and Find Full Text PDFGenes Chromosomes Cancer
January 2025
Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Rhabdomyosarcoma (RMS) is the most common soft tissue sarcoma in children, presenting with heterogeneous clinical and molecular subtypes. While gene fusions are predominantly associated with alveolar RMS, spindle cell RMS, especially congenital and intraosseous variants, are also linked to specific gene fusions. Furthermore, recently, FGFR1 kinase-driven RMSs were published.
View Article and Find Full Text PDFJ Pediatr Gastroenterol Nutr
January 2025
Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, Massachusetts, USA.
Objectives: To evaluate diagnostic testing frequency/yield and determine drivers of hospital charges in a prospective cohort of infants with brief resolved unexplained event (BRUE) to test the hypothesis that length of stay (LOS), low-yield diagnostic testing, and repeat hospital visits increase costs.
Methods: We conducted a prospective cohort study of infants admitted after BRUE to determine how clinical practice impacts the cost of care. Charge data from our institution's billing records database included room and board, diagnostics, medications, and professional fees for index hospitalizations and 6-month follow-ups.
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