FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2548621330> ?p ?o ?g. }

• W2548621330 abstract "Comprehensive genomic profiling (CGP) can simultaneously detect clinically relevant genomic alterations (CRGAs) in hundreds of cancer-related genes and direct treatment toward patient-specific therapy options for many tumors. This pilot study aimed to use CGP to describe CRGAs present in central giant cell lesions (CGCLs) to characterize any possible underlying genomic drivers of CGCLs.With institutional review board approval, electronic medical records were searched for patients with histologically confirmed CGCLs who underwent biopsy at Mayo Clinic from 2000 through 2014. Clinical characteristics were recorded from the medical records. At least 50 ng of DNA was extracted from formalin-fixed paraffin-embedded archival CGCL specimens by use of hybridization-capture, adaptor ligation-based libraries targeting all exons from 315 cancer-related genes plus select introns from 28 genes commonly rearranged in cancer. Samples were sequenced to high, uniform coverage and assessed for all 4 classes of genomic alterations: base substitutions, small insertions and deletions, rearrangements, and copy number alterations.Of 8 CGCL specimens, 3 (37.5%) harbored CRGAs, including base substitutions in BRAF, GNAS, and KRAS that are predicted to be oncogenic. In 1 sample, focal high-level amplification of the MITF gene was detected. Rearrangement in the PDGFRB gene was identified in a fourth sample, although the significance of this alteration is uncertain.This pilot study shows that a relatively high frequency of CRGAs (37.5%) can be identified in CGCLs by use of CGP. Furthermore, 25% of CGCLs analyzed had somatic mutations predicted to activate the mitogen-activated protein kinase signaling pathway, suggesting it may be a driver of the aggressive behavior of these lesions. On the basis of this study, genomic profiling of a larger cohort of CGCLs to validate these observations, as well as correlate mutations with aggressive versus nonaggressive biological behavior and therapeutic responses, appears warranted." @default.
• W2548621330 created "2016-11-11" @default.
• W2548621330 creator A5020125149 @default.
• W2548621330 creator A5041066266 @default.
• W2548621330 creator A5062006821 @default.
• W2548621330 creator A5062271022 @default.
• W2548621330 creator A5067006388 @default.
• W2548621330 date "2017-05-01" @default.
• W2548621330 modified "2023-09-28" @default.
• W2548621330 title "Comprehensive Genomic Profiling of Central Giant Cell Lesions Identifies Clinically Relevant Genomic Alterations" @default.
• W2548621330 cites W1833693759 @default.
• W2548621330 cites W1981125188 @default.
• W2548621330 cites W1981415796 @default.
• W2548621330 cites W1994350140 @default.
• W2548621330 cites W1994779874 @default.
• W2548621330 cites W2011982648 @default.
• W2548621330 cites W2012616155 @default.
• W2548621330 cites W2014293036 @default.
• W2548621330 cites W2014608686 @default.
• W2548621330 cites W2031380109 @default.
• W2548621330 cites W2041485449 @default.
• W2548621330 cites W2046919639 @default.
• W2548621330 cites W2047816228 @default.
• W2548621330 cites W2048227276 @default.
• W2548621330 cites W2084600444 @default.
• W2548621330 cites W2085167953 @default.
• W2548621330 cites W2086519027 @default.
• W2548621330 cites W2099224936 @default.
• W2548621330 cites W2142586252 @default.
• W2548621330 cites W2160981405 @default.
• W2548621330 cites W2164211886 @default.
• W2548621330 cites W2190439414 @default.
• W2548621330 cites W2212026272 @default.
• W2548621330 cites W2235049532 @default.
• W2548621330 cites W2265028345 @default.
• W2548621330 cites W2267983237 @default.
• W2548621330 cites W2289152643 @default.
• W2548621330 cites W2293178613 @default.
• W2548621330 cites W2294636645 @default.
• W2548621330 cites W2294723338 @default.
• W2548621330 cites W2301130184 @default.
• W2548621330 cites W2302158695 @default.
• W2548621330 cites W2306999703 @default.
• W2548621330 cites W2315581823 @default.
• W2548621330 cites W2325007537 @default.
• W2548621330 cites W2329321844 @default.
• W2548621330 cites W2332927548 @default.
• W2548621330 doi "https://doi.org/10.1016/j.joms.2016.10.027" @default.
• W2548621330 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27883876" @default.
• W2548621330 hasPublicationYear "2017" @default.
• W2548621330 type Work @default.
• W2548621330 sameAs 2548621330 @default.
• W2548621330 citedByCount "5" @default.
• W2548621330 countsByYear W25486213302018 @default.
• W2548621330 countsByYear W25486213302019 @default.
• W2548621330 countsByYear W25486213302021 @default.
• W2548621330 crossrefType "journal-article" @default.
• W2548621330 hasAuthorship W2548621330A5020125149 @default.
• W2548621330 hasAuthorship W2548621330A5041066266 @default.
• W2548621330 hasAuthorship W2548621330A5062006821 @default.
• W2548621330 hasAuthorship W2548621330A5062271022 @default.
• W2548621330 hasAuthorship W2548621330A5067006388 @default.
• W2548621330 hasConcept C104317684 @default.
• W2548621330 hasConcept C121608353 @default.
• W2548621330 hasConcept C126322002 @default.
• W2548621330 hasConcept C142724271 @default.
• W2548621330 hasConcept C16930146 @default.
• W2548621330 hasConcept C17757408 @default.
• W2548621330 hasConcept C2775922572 @default.
• W2548621330 hasConcept C2780265364 @default.
• W2548621330 hasConcept C2781187634 @default.
• W2548621330 hasConcept C36823959 @default.
• W2548621330 hasConcept C37307934 @default.
• W2548621330 hasConcept C501734568 @default.
• W2548621330 hasConcept C502942594 @default.
• W2548621330 hasConcept C54355233 @default.
• W2548621330 hasConcept C70721500 @default.
• W2548621330 hasConcept C71924100 @default.
• W2548621330 hasConcept C74231797 @default.
• W2548621330 hasConcept C78221974 @default.
• W2548621330 hasConcept C84597430 @default.
• W2548621330 hasConcept C86803240 @default.
• W2548621330 hasConceptScore W2548621330C104317684 @default.
• W2548621330 hasConceptScore W2548621330C121608353 @default.
• W2548621330 hasConceptScore W2548621330C126322002 @default.
• W2548621330 hasConceptScore W2548621330C142724271 @default.
• W2548621330 hasConceptScore W2548621330C16930146 @default.
• W2548621330 hasConceptScore W2548621330C17757408 @default.
• W2548621330 hasConceptScore W2548621330C2775922572 @default.
• W2548621330 hasConceptScore W2548621330C2780265364 @default.
• W2548621330 hasConceptScore W2548621330C2781187634 @default.
• W2548621330 hasConceptScore W2548621330C36823959 @default.
• W2548621330 hasConceptScore W2548621330C37307934 @default.
• W2548621330 hasConceptScore W2548621330C501734568 @default.
• W2548621330 hasConceptScore W2548621330C502942594 @default.
• W2548621330 hasConceptScore W2548621330C54355233 @default.
• W2548621330 hasConceptScore W2548621330C70721500 @default.
• W2548621330 hasConceptScore W2548621330C71924100 @default.
• W2548621330 hasConceptScore W2548621330C74231797 @default.
• W2548621330 hasConceptScore W2548621330C78221974 @default.

• next