<i>CSMD1</i> Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer

Tumor mutational burden (TMB) is considered a potential biomarker for predicting the response and effect of immune checkpoint inhibitors (ICIs). To find specific gene mutations related to TMB and the prognosis of patients, the frequently mutated genes in gastric cancer patients from TCGA and ICGC we...

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Autores principales:	Taobi Huang, Yuan Liang, Huiyun Zhang, Xia Chen, Hui Wei, Weiming Sun, Yuping Wang
Formato:	article
Lenguaje:	EN
Publicado:	MDPI AG 2021
Materias:	<i>CSMD1</i> TCGA ICGC gastric cancer survival tumor mutational burden Genetics QH426-470
Acceso en línea:	https://doaj.org/article/548a190aea1142ddb5e1a057a692f337
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spelling	oai:doaj.org-article:548a190aea1142ddb5e1a057a692f3372021-11-25T17:41:11Z<i>CSMD1</i> Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer10.3390/genes121117152073-4425https://doaj.org/article/548a190aea1142ddb5e1a057a692f3372021-10-01T00:00:00Zhttps://www.mdpi.com/2073-4425/12/11/1715https://doaj.org/toc/2073-4425Tumor mutational burden (TMB) is considered a potential biomarker for predicting the response and effect of immune checkpoint inhibitors (ICIs). To find specific gene mutations related to TMB and the prognosis of patients, the frequently mutated genes in gastric cancer patients from TCGA and ICGC were obtained and the correlation between gene mutation, TMB, and prognosis was analyzed. Furthermore, to clarify whether specific gene mutations can be used as predictive biomarkers of ICIs, a gene set enrichment analysis (GSEA) for immune pathways and an immune infiltration analysis were conducted. The results showed that CUB and Sushi multiple domains 1 (<i>CSMD1</i>) mutation (<i>CSMD1</i>-mut) were associated with higher TMB and better prognosis in patients. The genetic map showed that, compared with wild-type samples, the loss of chromosomes 4q, 5q, 8p, and 9p decreased and the status of microsatellite instability increased in the <i>CSMD1</i>-mut samples. The GSEA analysis showed that immune-related pathways were enriched in the <i>CSMD1</i>-mut samples. The immune infiltration analysis showed that the anti-tumor immune cells were upregulated and that the tumor-promoting immune cells were downregulated in the <i>CSMD1</i>-mut samples. The gene co-expression analysis showed that PD-L1 expression was higher in the <i>CSMD1</i>-mut samples. In summary, <i>CSMD1</i>-mut in gastric cancer was associated with increased TMB and favorable survival and may have potential significance in predicting the efficacy of anti-PD-L1.Taobi HuangYuan LiangHuiyun ZhangXia ChenHui WeiWeiming SunYuping WangMDPI AGarticle<i>CSMD1</i>TCGAICGCgastric cancersurvivaltumor mutational burdenGeneticsQH426-470ENGenes, Vol 12, Iss 1715, p 1715 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	<i>CSMD1</i> TCGA ICGC gastric cancer survival tumor mutational burden Genetics QH426-470
spellingShingle	<i>CSMD1</i> TCGA ICGC gastric cancer survival tumor mutational burden Genetics QH426-470 Taobi Huang Yuan Liang Huiyun Zhang Xia Chen Hui Wei Weiming Sun Yuping Wang <i>CSMD1</i> Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer
description	Tumor mutational burden (TMB) is considered a potential biomarker for predicting the response and effect of immune checkpoint inhibitors (ICIs). To find specific gene mutations related to TMB and the prognosis of patients, the frequently mutated genes in gastric cancer patients from TCGA and ICGC were obtained and the correlation between gene mutation, TMB, and prognosis was analyzed. Furthermore, to clarify whether specific gene mutations can be used as predictive biomarkers of ICIs, a gene set enrichment analysis (GSEA) for immune pathways and an immune infiltration analysis were conducted. The results showed that CUB and Sushi multiple domains 1 (<i>CSMD1</i>) mutation (<i>CSMD1</i>-mut) were associated with higher TMB and better prognosis in patients. The genetic map showed that, compared with wild-type samples, the loss of chromosomes 4q, 5q, 8p, and 9p decreased and the status of microsatellite instability increased in the <i>CSMD1</i>-mut samples. The GSEA analysis showed that immune-related pathways were enriched in the <i>CSMD1</i>-mut samples. The immune infiltration analysis showed that the anti-tumor immune cells were upregulated and that the tumor-promoting immune cells were downregulated in the <i>CSMD1</i>-mut samples. The gene co-expression analysis showed that PD-L1 expression was higher in the <i>CSMD1</i>-mut samples. In summary, <i>CSMD1</i>-mut in gastric cancer was associated with increased TMB and favorable survival and may have potential significance in predicting the efficacy of anti-PD-L1.
format	article
author	Taobi Huang Yuan Liang Huiyun Zhang Xia Chen Hui Wei Weiming Sun Yuping Wang
author_facet	Taobi Huang Yuan Liang Huiyun Zhang Xia Chen Hui Wei Weiming Sun Yuping Wang
author_sort	Taobi Huang
title	<i>CSMD1</i> Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer
title_short	<i>CSMD1</i> Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer
title_full	<i>CSMD1</i> Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer
title_fullStr	<i>CSMD1</i> Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer
title_full_unstemmed	<i>CSMD1</i> Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer
title_sort	<i>csmd1</i> mutations are associated with increased mutational burden, favorable prognosis, and anti-tumor immunity in gastric cancer
publisher	MDPI AG
publishDate	2021
url	https://doaj.org/article/548a190aea1142ddb5e1a057a692f337
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<i>CSMD1</i> Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer

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