Wiktoria Urban, Dagmara Krzystańska, Michał Piekarz, Jerzy Nazar, Anna Jankowska
{"title":"基因突变描绘了骨肉瘤的遗传景观。","authors":"Wiktoria Urban, Dagmara Krzystańska, Michał Piekarz, Jerzy Nazar, Anna Jankowska","doi":"10.18388/abp.2020_6869","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Osteosarcoma (OS) is one of the most common primary bone tumors. Direct pathogenesis remains unknown, however, genes' mutations are proven to participate in the process. This study aimed to examine the most frequently mutated genes in OS to appoint candidates for the cancer markers.</p><p><strong>Methods: </strong>Using the COSMIC Catalogue twenty the most frequently mutated genes were selected leading to an up-to-date genetic OS landscape summary. The genes can be classified into four categories: suppressor genes (TP53, RB1, NCOR1, SMAD2, NF1, TSC2, KMT2C), proto-oncogenes (GNAS, BRAF, MLLT3), epigenetic and post-translational modification-related genes (SMARCA4, ARID1A, ATRX, BCOR, H3F3A) and cell growth and survival regulating genes (EGFR, CAMTA1, LRP1B, PDE4DIP, MED12).</p><p><strong>Results and conclusions: </strong>Their role in cancerogenesis was confirmed by the analysis of available articles published previously. The results of the study indicate that examination of selected genes' mutations might help to identify patients' predisposition to OS development, as well as monitor the disease progression, and establish prognosis. However, to fully understand the pathogenesis of OS further studies are required.</p>","PeriodicalId":6984,"journal":{"name":"Acta biochimica Polonica","volume":" ","pages":"671-678"},"PeriodicalIF":1.4000,"publicationDate":"2023-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Osteosarcoma's genetic landscape painted by genes' mutations.\",\"authors\":\"Wiktoria Urban, Dagmara Krzystańska, Michał Piekarz, Jerzy Nazar, Anna Jankowska\",\"doi\":\"10.18388/abp.2020_6869\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>Osteosarcoma (OS) is one of the most common primary bone tumors. Direct pathogenesis remains unknown, however, genes' mutations are proven to participate in the process. This study aimed to examine the most frequently mutated genes in OS to appoint candidates for the cancer markers.</p><p><strong>Methods: </strong>Using the COSMIC Catalogue twenty the most frequently mutated genes were selected leading to an up-to-date genetic OS landscape summary. The genes can be classified into four categories: suppressor genes (TP53, RB1, NCOR1, SMAD2, NF1, TSC2, KMT2C), proto-oncogenes (GNAS, BRAF, MLLT3), epigenetic and post-translational modification-related genes (SMARCA4, ARID1A, ATRX, BCOR, H3F3A) and cell growth and survival regulating genes (EGFR, CAMTA1, LRP1B, PDE4DIP, MED12).</p><p><strong>Results and conclusions: </strong>Their role in cancerogenesis was confirmed by the analysis of available articles published previously. The results of the study indicate that examination of selected genes' mutations might help to identify patients' predisposition to OS development, as well as monitor the disease progression, and establish prognosis. However, to fully understand the pathogenesis of OS further studies are required.</p>\",\"PeriodicalId\":6984,\"journal\":{\"name\":\"Acta biochimica Polonica\",\"volume\":\" \",\"pages\":\"671-678\"},\"PeriodicalIF\":1.4000,\"publicationDate\":\"2023-09-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta biochimica Polonica\",\"FirstCategoryId\":\"99\",\"ListUrlMain\":\"https://doi.org/10.18388/abp.2020_6869\",\"RegionNum\":4,\"RegionCategory\":\"生物学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"BIOCHEMISTRY & MOLECULAR BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta biochimica Polonica","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.18388/abp.2020_6869","RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"BIOCHEMISTRY & MOLECULAR BIOLOGY","Score":null,"Total":0}
Osteosarcoma's genetic landscape painted by genes' mutations.
Purpose: Osteosarcoma (OS) is one of the most common primary bone tumors. Direct pathogenesis remains unknown, however, genes' mutations are proven to participate in the process. This study aimed to examine the most frequently mutated genes in OS to appoint candidates for the cancer markers.
Methods: Using the COSMIC Catalogue twenty the most frequently mutated genes were selected leading to an up-to-date genetic OS landscape summary. The genes can be classified into four categories: suppressor genes (TP53, RB1, NCOR1, SMAD2, NF1, TSC2, KMT2C), proto-oncogenes (GNAS, BRAF, MLLT3), epigenetic and post-translational modification-related genes (SMARCA4, ARID1A, ATRX, BCOR, H3F3A) and cell growth and survival regulating genes (EGFR, CAMTA1, LRP1B, PDE4DIP, MED12).
Results and conclusions: Their role in cancerogenesis was confirmed by the analysis of available articles published previously. The results of the study indicate that examination of selected genes' mutations might help to identify patients' predisposition to OS development, as well as monitor the disease progression, and establish prognosis. However, to fully understand the pathogenesis of OS further studies are required.
期刊介绍：
Acta Biochimica Polonica is a journal covering enzymology and metabolism, membranes and bioenergetics, gene structure and expression, protein, nucleic acid and carbohydrate structure and metabolism.
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