Human Pathology: Case Reports (Sep 2020)

Expression and clinical significance of five major genes in cutaneous melanoma based on TCGA database

  • Cui-hua Ren,
  • Ying Ruan

DOI
https://doi.org/10.1016/j.ehpc.2020.200411
Journal volume & issue
Vol. 21
p. 200411

Abstract

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To explore the expression and clinical significance of major related genes in cutaneous melanoma based on the Cancer Genome Atlas (TCGA) datasets. Five genes with high mutation rate in cutaneous melanoma were screened. Gene expression analysis, gene regulatory network analysis and Kaplan-Meier survival analysis were performed by bioinformatics tools such as cBioPortal and GSCALite. In the TCGA data of 448 cases of cutaneous melanoma, the corresponding mutation rates of TTN, MUC16, DNAH5, BRAF and PCLO genes were 79.3%, 73.4%, 56.8%, 53.8% and 48.9%, respectively. These gene mutations are mainly missense mutations, and most of them have C > T mutations. The results of gene co-expression showed that there might be a synergistic effect between the above genes, and the enrichment analysis showed that the BCL2 protein was under-expressed in cutaneous melanoma. Meanwhile, Kaplan-Meier survival analysis showed that the MUC16 mutation group had a good prognosis and long survival time, suggesting that MUC16 gene may be one of the indicators of good prognosis in patients with cutaneous melanoma. The relationship between the abnormal expression of these genes and the survival rate of cutaneous melanoma was preliminarily confirmed, and it was found that MUC16 gene and the apoptosis pathway involved in BCL2 may be involved in the etiological process of cutaneous melanoma.

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