2019
DOI: 10.1111/pcmr.12841
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Functional analysis of RPS27 mutations and expression in melanoma

Abstract: Next‐generation sequencing has enabled genetic and genomic characterization of melanoma to an unprecedent depth. However, the high mutational background plus the limited depth of coverage of whole‐genome sequencing performed on cutaneous melanoma samples make the identification of novel driver mutations difficult. We sought to explore the somatic mutation portfolio in exonic and gene regulatory regions in human melanoma samples, for which we performed targeted sequencing of tumors and matched germline DNA samp… Show more

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Cited by 16 publications
(21 citation statements)
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“…Since mRNA expression does not necessarily reflect protein expression due to post-translational modification, we cannot exclude that there might be a correlation of RPS27 protein expression with the patients' clinical course. Nevertheless, TCGA data largely confirmed our findings, except for a recent report analyzing the TCGA dataset showing that patients diagnosed with low-grade gliomas and high RPS27 expression had a better prognosis than those patients with low expression [39]. Having a second look at our Kaplan-Meier analysis, we see a similar trend for the long-term survivors in our WHO grade II/III cohort.…”
Section: Discussionsupporting
confidence: 88%
“…Since mRNA expression does not necessarily reflect protein expression due to post-translational modification, we cannot exclude that there might be a correlation of RPS27 protein expression with the patients' clinical course. Nevertheless, TCGA data largely confirmed our findings, except for a recent report analyzing the TCGA dataset showing that patients diagnosed with low-grade gliomas and high RPS27 expression had a better prognosis than those patients with low expression [39]. Having a second look at our Kaplan-Meier analysis, we see a similar trend for the long-term survivors in our WHO grade II/III cohort.…”
Section: Discussionsupporting
confidence: 88%
“…On the other hand, we associate the bimodal expression pattern with prognosis. To our knowledge, only [11] have associated the bimodal expression pattern of RPS27 with clinical outcome in several tumor types, a gene also observed in our data. This makes our analysis the first one, to our knowledge, to explore the association between the modes of gene expression distribution with prognosis in a genome-wide context.…”
Section: Discussionsupporting
confidence: 70%
“…It is made available under a preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in The copyright holder for this this version posted December 21, 2020. ; https://doi.org/10.1101/2020.12.21.423759 doi: bioRxiv preprint bimodal expression pattern in muscle tissue. Other genes include RPS27, found by [11] to have bimodal expression in several tumor types, and USP9AY, found to show bimodality in endometrium [26]. Interestingly, among the genes with bimodality in more than one tumor type, 12 are mapped to the Y chromosome (p<10 -5 ), an unexpected observation due to the low gene density in this chromosome.…”
Section: Discussionmentioning
confidence: 99%
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“…Overexpression of RPS14 can inhibit Rb phosphorylation and induce cell cycle arrest and aging, which may be related to cancer treatment [ 34 ]. Also, low expression of RPS27 is associated with poor clinical prognosis in melanoma [ 35 ]. RPL11, affecting osteosarcoma malignant phenotype, may be a new prognostic markers of osteosarcoma survival [ 36 ].…”
Section: Discussionmentioning
confidence: 99%