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Genomic, pathway network, and immunologic features distinguishing squamous carcinomas

Title: Genomic, pathway network, and immunologic features distinguishing squamous carcinomas
Authors: Campbell, JD; Yau, C; Bowlby, R; Liu, Y; Brennan, K; Fan, H; Taylor, AM; Wang, C; Walter, V; Akbani, R; Byers, LA; Creighton, CJ; Coarfa, C; Shih, J; Cherniack, AD; Gevaert, O; Prunello, M; Shen, H; Anur, P; Chen, J; Cheng, H; Hayes, DN; Bullman, S; Pedamallu, CS; Ojesina, AI; Sadeghi, S; Mungall, KL; Robertson, AG; Benz, C; Schultz, A; Kanchi, RS; Gay, CM; Hegde, A; Diao, L; Wang, J; Ma, W; Sumazin, P; Chiu, H-S; Chen, T-W; Gunaratne, P; Donehower, L; Rader, JS; Zuna, R; Al-Ahmadie, H; Lazar, AJ; Flores, ER; Tsai, KY; Zhou, JH; Rustgi, AK; Drill, E; Shen, R; Wong, CK; Stuart, JM; Laird, PW; Hoadley, KA; Weinstein, JN; Peto, M; Pickering, CR; Chen, Z; Van Waes, C
Contributors: SAIC-F-Frederick, Inc; Leidos Biomedical Research, Inc.
Source: 212 ; 194
Publisher Information: Elsevier
Publication Year: 2018
Collection: Imperial College London: Spiral
Subject Terms: Science & Technology; Life Sciences & Biomedicine; Cell Biology; CELL CARCINOMA; FANCONI-ANEMIA; ANTITUMOR-ACTIVITY; HUMAN HEAD; INHIBITOR; EXPRESSION; PHOSPHORYLATION; PROTEINS; CANCERS; GENES; bladder carcinoma with squamous differentiation; cervical squamous cell carcinoma; esophageal squamous cell carcinoma; genomics; head and neck squamous cell carcinoma; human papillomavirus; lung squamous cell carcinoma; proteomics; transcriptomics; Cancer Genome Atlas Research Network
Description: This integrated, multiplatform PanCancer Atlas study co-mapped and identified distinguishing molecular features of squamous cell carcinomas (SCCs) from five sites associated with smoking and/or human papillomavirus (HPV). SCCs harbor 3q, 5p, and other recurrent chromosomal copy-number alterations (CNAs), DNA mutations, and/or aberrant methylation of genes and microRNAs, which are correlated with the expression of multi-gene programs linked to squamous cell stemness, epithelial-to-mesenchymal differentiation, growth, genomic integrity, oxidative damage, death, and inflammation. Low-CNA SCCs tended to be HPV(+) and display hypermethylation with repression of TET1 demethylase and FANCF, previously linked to predisposition to SCC, or harbor mutations affecting CASP8, RAS-MAPK pathways, chromatin modifiers, and immunoregulatory molecules. We uncovered hypomethylation of the alternative promoter that drives expression of the ΔNp63 oncogene and embedded miR944. Co-expression of immune checkpoint, T-regulatory, and Myeloid suppressor cells signatures may explain reduced efficacy of immune therapy. These findings support possibilities for molecular classification and therapeutic approaches.
Document Type: article in journal/newspaper
Language: English
Relation: Cell Reports; http://hdl.handle.net/10044/1/71264; https://doi.org/10.1016/j.celrep.2018.03.063; TCGA Pilot Program; 15Y011ST
DOI: 10.1016/j.celrep.2018.03.063
Availability: http://hdl.handle.net/10044/1/71264; https://doi.org/10.1016/j.celrep.2018.03.063
Rights: © 2018 The Authors. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Accession Number: edsbas.41BF4AF2
Database: BASE