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• W4210486201 abstract "ABSTRACT Metastatic cutaneous squamous cell carcinoma (cSCC) is a highly morbid disease requiring radical surgery and adjuvant therapy that is associated with reduced overall survival. Yet compared to other advanced malignancies, relatively little is known of the genomic landscape of metastatic cSCC. We have previously reported the mutational signatures and mutational patterns of CCCTC-binding factor (CTCF) regions in metastatic cSCC. However, many other genomic components (indel signatures, non-coding drivers, and structural variants) of metastatic cSCC have not been reported. To this end, we performed whole genome sequencing on lymph node metastases and blood DNA from 25 cSCC patients with regional metastases of the head and neck. We designed a multifaceted computational analysis at the whole genome level to provide a more comprehensive perspective of the genomic landscape of metastatic cSCC. In the noncoding genome, 3’UTR regions of EVC (48% of specimens), PPP1R1A (48% of specimens) and ABCA4 (20% of specimens) along with the tumor-suppressing lncRNA LINC01003 (64% of specimens) were significantly functionally altered (Q-value < 0.05) and represent potential noncoding biomarkers of cSCC. Recurrent copy number loss in the tumor suppressor gene PTPRD was observed. Gene amplification was much less frequent and few genes were recurrently amplified. Single nucleotide variants driver analyses from 3 tools confirmed TP53 and CDKN2A as recurrently mutated genes but also identified C9 as potential novel driver in this disease. Further, indel signature analysis highlighted the dominance of ID signature 13 (ID13) followed by ID8 and ID9. ID 9 has previously been shown to have no association with skin melanoma, unlike ID 13 and 8, suggesting a novel pattern of indel variation in metastatic cSCC. The enrichment analysis of various genetically altered candidates shows enrichment of ‘TGF-beta regulation of extracellular matrix’ and ‘Cell cycle G1 to S check points’. These enriched terms are associated with genetic instability, cell proliferation, and migration providing mechanisms of genomic drivers of metastatic cSCC." @default.
• W4210486201 created "2022-02-08" @default.
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• W4210486201 date "2022-01-11" @default.
• W4210486201 modified "2023-09-26" @default.
• W4210486201 title "Whole genome analysis reveals the genomic complexity in metastatic cutaneous squamous cell carcinoma" @default.
• W4210486201 cites W1173664083 @default.
• W4210486201 cites W1749625474 @default.
• W4210486201 cites W1869167622 @default.
• W4210486201 cites W1969343366 @default.
• W4210486201 cites W1996333213 @default.
• W4210486201 cites W2008751301 @default.
• W4210486201 cites W2009720434 @default.
• W4210486201 cites W2032436756 @default.
• W4210486201 cites W2034931360 @default.
• W4210486201 cites W2038666996 @default.
• W4210486201 cites W2040600853 @default.
• W4210486201 cites W2054954199 @default.
• W4210486201 cites W2059126678 @default.
• W4210486201 cites W2070489177 @default.
• W4210486201 cites W2081501450 @default.
• W4210486201 cites W2082824112 @default.
• W4210486201 cites W2103860066 @default.
• W4210486201 cites W2109758976 @default.
• W4210486201 cites W2114843025 @default.
• W4210486201 cites W2123523927 @default.
• W4210486201 cites W2124824529 @default.
• W4210486201 cites W2134629862 @default.
• W4210486201 cites W2143871341 @default.
• W4210486201 cites W2145931730 @default.
• W4210486201 cites W2149441684 @default.
• W4210486201 cites W2157466346 @default.
• W4210486201 cites W2168418784 @default.
• W4210486201 cites W2175360426 @default.
• W4210486201 cites W2339240569 @default.
• W4210486201 cites W2341025815 @default.
• W4210486201 cites W2345356016 @default.
• W4210486201 cites W2346066981 @default.
• W4210486201 cites W2436745791 @default.
• W4210486201 cites W2559785292 @default.
• W4210486201 cites W2601063446 @default.
• W4210486201 cites W2605019088 @default.
• W4210486201 cites W2611187032 @default.
• W4210486201 cites W2611387862 @default.
• W4210486201 cites W2613362156 @default.
• W4210486201 cites W2727044676 @default.
• W4210486201 cites W2731447759 @default.
• W4210486201 cites W2763391293 @default.
• W4210486201 cites W2765770547 @default.
• W4210486201 cites W2805724007 @default.
• W4210486201 cites W2805968856 @default.
• W4210486201 cites W2806317563 @default.
• W4210486201 cites W2810427807 @default.
• W4210486201 cites W2810981777 @default.
• W4210486201 cites W2885930552 @default.
• W4210486201 cites W2892065844 @default.
• W4210486201 cites W2898789672 @default.
• W4210486201 cites W2902531676 @default.
• W4210486201 cites W2903383393 @default.
• W4210486201 cites W2912010517 @default.
• W4210486201 cites W2915433652 @default.
• W4210486201 cites W2923862975 @default.
• W4210486201 cites W2940964825 @default.
• W4210486201 cites W2965059444 @default.
• W4210486201 cites W2981548686 @default.
• W4210486201 cites W2986995081 @default.
• W4210486201 cites W2990179403 @default.
• W4210486201 cites W2996660422 @default.
• W4210486201 cites W3004480399 @default.
• W4210486201 cites W3012783823 @default.
• W4210486201 cites W3023297023 @default.
• W4210486201 cites W3023747988 @default.
• W4210486201 cites W3032771300 @default.
• W4210486201 cites W3046104319 @default.
• W4210486201 cites W3120089253 @default.
• W4210486201 cites W3144523789 @default.
• W4210486201 cites W3160770927 @default.
• W4210486201 cites W3161502194 @default.
• W4210486201 cites W3179715910 @default.
• W4210486201 cites W3207973275 @default.
• W4210486201 cites W4205679629 @default.
• W4210486201 cites W4206124656 @default.
• W4210486201 cites W4210315093 @default.
• W4210486201 cites W4211082216 @default.
• W4210486201 cites W4229586181 @default.
• W4210486201 cites W607798512 @default.
• W4210486201 doi "https://doi.org/10.1101/2022.01.10.22269035" @default.
• W4210486201 hasPublicationYear "2022" @default.
• W4210486201 type Work @default.

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