{"title":"胃癌患者端粒维持相关基因突变影响的鉴定","authors":"Anju R. Nath, Jeyakumar Natarajan","doi":"10.1016/j.meomic.2023.100025","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>Mutations in gastric cancer may remain harmless despite mutations that can turn oncogenic. Although omics technologies have supplied a clear view of mutations and driver genes in cancers, the pathology of gastric cancer still is unknown.</p></div><div><h3>Objective</h3><p>This study aims to understand mutations of genes that relate to telomere maintenance in gastric cancer.</p></div><div><h3>Methods</h3><p>We used transcriptomic and proteomic data from normal and gastric cancer patients to decide the relationship between genes and proteins. We ranked the gene-protein pairs with the Spearman correlation and subjected the differently ranked genes for functional analysis. We performed the co-expression analysis to select the genes from functional analysis. Then we assessed the selected genes for mutations and thereafter neoantigen analysis.</p></div><div><h3>Results</h3><p>We identified 20 genes through differential ranking based on Spearman correlation of gene-protein pairs. Among these, ERCC1, MRE11A, RAD50, TP53BP1, and YWHAE were linked to critical functions like DNA repair, apoptosis, and stress response. Gene prioritization focused on these five genes, and from them through gene co-expression, RAD50, TP53BP1, and YWHAE were selected. Mutational analysis revealed prevalent C > T and G > A mutations. These genes were associated with elderly patients, specific histologic grades, and types of gastric cancer. Importantly, these mutations generated neoantigens with potential for immunotherapeutic targeting.</p></div><div><h3>Conclusion</h3><p>Our extensive research shows the complex genetic makeup of gastric cancer and its potential effects on diagnosis and treatment. The identified genes and the mutations linked to them offer important information on the molecular processes behind gastric cancer progression. These results set the foundation for additional research and immunotherapeutic applications in the field of gastric cancer.</p></div>","PeriodicalId":100914,"journal":{"name":"Medicine in Omics","volume":"10 ","pages":"Article 100025"},"PeriodicalIF":0.0000,"publicationDate":"2023-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2590124923000068/pdfft?md5=9d115915f82ec87beae4dbf57cf84944&pid=1-s2.0-S2590124923000068-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Identification of effect of gene mutations related to telomere maintenance in gastric cancer patients\",\"authors\":\"Anju R. Nath, Jeyakumar Natarajan\",\"doi\":\"10.1016/j.meomic.2023.100025\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><p>Mutations in gastric cancer may remain harmless despite mutations that can turn oncogenic. Although omics technologies have supplied a clear view of mutations and driver genes in cancers, the pathology of gastric cancer still is unknown.</p></div><div><h3>Objective</h3><p>This study aims to understand mutations of genes that relate to telomere maintenance in gastric cancer.</p></div><div><h3>Methods</h3><p>We used transcriptomic and proteomic data from normal and gastric cancer patients to decide the relationship between genes and proteins. We ranked the gene-protein pairs with the Spearman correlation and subjected the differently ranked genes for functional analysis. We performed the co-expression analysis to select the genes from functional analysis. Then we assessed the selected genes for mutations and thereafter neoantigen analysis.</p></div><div><h3>Results</h3><p>We identified 20 genes through differential ranking based on Spearman correlation of gene-protein pairs. Among these, ERCC1, MRE11A, RAD50, TP53BP1, and YWHAE were linked to critical functions like DNA repair, apoptosis, and stress response. Gene prioritization focused on these five genes, and from them through gene co-expression, RAD50, TP53BP1, and YWHAE were selected. Mutational analysis revealed prevalent C > T and G > A mutations. These genes were associated with elderly patients, specific histologic grades, and types of gastric cancer. Importantly, these mutations generated neoantigens with potential for immunotherapeutic targeting.</p></div><div><h3>Conclusion</h3><p>Our extensive research shows the complex genetic makeup of gastric cancer and its potential effects on diagnosis and treatment. The identified genes and the mutations linked to them offer important information on the molecular processes behind gastric cancer progression. These results set the foundation for additional research and immunotherapeutic applications in the field of gastric cancer.</p></div>\",\"PeriodicalId\":100914,\"journal\":{\"name\":\"Medicine in Omics\",\"volume\":\"10 \",\"pages\":\"Article 100025\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-10-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S2590124923000068/pdfft?md5=9d115915f82ec87beae4dbf57cf84944&pid=1-s2.0-S2590124923000068-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Medicine in Omics\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2590124923000068\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Medicine in Omics","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2590124923000068","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Identification of effect of gene mutations related to telomere maintenance in gastric cancer patients
Background
Mutations in gastric cancer may remain harmless despite mutations that can turn oncogenic. Although omics technologies have supplied a clear view of mutations and driver genes in cancers, the pathology of gastric cancer still is unknown.
Objective
This study aims to understand mutations of genes that relate to telomere maintenance in gastric cancer.
Methods
We used transcriptomic and proteomic data from normal and gastric cancer patients to decide the relationship between genes and proteins. We ranked the gene-protein pairs with the Spearman correlation and subjected the differently ranked genes for functional analysis. We performed the co-expression analysis to select the genes from functional analysis. Then we assessed the selected genes for mutations and thereafter neoantigen analysis.
Results
We identified 20 genes through differential ranking based on Spearman correlation of gene-protein pairs. Among these, ERCC1, MRE11A, RAD50, TP53BP1, and YWHAE were linked to critical functions like DNA repair, apoptosis, and stress response. Gene prioritization focused on these five genes, and from them through gene co-expression, RAD50, TP53BP1, and YWHAE were selected. Mutational analysis revealed prevalent C > T and G > A mutations. These genes were associated with elderly patients, specific histologic grades, and types of gastric cancer. Importantly, these mutations generated neoantigens with potential for immunotherapeutic targeting.
Conclusion
Our extensive research shows the complex genetic makeup of gastric cancer and its potential effects on diagnosis and treatment. The identified genes and the mutations linked to them offer important information on the molecular processes behind gastric cancer progression. These results set the foundation for additional research and immunotherapeutic applications in the field of gastric cancer.