Farideh Saberi, Omar Youssef, Arto Kokkola, Mahsa Khodadoostan, Pauli Puolakkainen, Rasoul Salehi, Sakari Knuutila
{"title":"与芬兰患者相比，伊朗结直肠癌患者粪便样本中 NRAS 突变的频率。","authors":"Farideh Saberi, Omar Youssef, Arto Kokkola, Mahsa Khodadoostan, Pauli Puolakkainen, Rasoul Salehi, Sakari Knuutila","doi":"10.4103/jrms.jrms_208_23","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Stools from colorectal cancer patients are noninvasive samples that could be used to compare the frequency of hotspot mutations between two different ethnic cohorts.</p><p><strong>Materials and methods: </strong>We collected stool samples from the Iranian cohort (52 patients and 49 controls) and the Finnish cohort (40 patients and 14 controls). Following stool DNA extraction, we used the AmpliSeq Colon and Lung Cancer panel to prepare DNA libraries before sequencing.</p><p><strong>Results: </strong>The Iranian cohort exhibited 35 hotspot mutations in the <i>BRAF</i>, <i>ERBB4</i>, <i>FBXW7</i>, <i>FGFR1</i>, <i>FGFR3</i>, <i>KRAS</i>, <i>MAP2K</i>, <i>MET</i>, <i>NRAS</i>, <i>PIK3C</i>, <i>SMAD4</i>, and <i>TP53</i> genes. In the Finnish cohort, 13 hotspot mutations were found in the <i>AKT1</i>, <i>APC</i>, <i>KIT</i>, <i>KRAS</i>, <i>SMO</i>, <i>STK11</i>, and <i>TP53</i> genes. Mutations in <i>NRAS</i> and <i>FGFR3</i> were observed only in the Iranian cohort, while <i>APC</i> mutations were exclusive for the Finnish cohort.</p><p><strong>Conclusion: </strong>Genes involved in MAPK and PI3K-MAPK pathways showed a higher frequency of mutations in Iranian patients which may have therapeutic implications.</p>","PeriodicalId":50062,"journal":{"name":"Journal of Research in Medical Sciences","volume":"29 ","pages":"4"},"PeriodicalIF":1.5000,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10956560/pdf/","citationCount":"0","resultStr":"{\"title\":\"The frequency of NRAS mutation in stool samples of Iranian colorectal cancers compared to Finnish patients.\",\"authors\":\"Farideh Saberi, Omar Youssef, Arto Kokkola, Mahsa Khodadoostan, Pauli Puolakkainen, Rasoul Salehi, Sakari Knuutila\",\"doi\":\"10.4103/jrms.jrms_208_23\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Stools from colorectal cancer patients are noninvasive samples that could be used to compare the frequency of hotspot mutations between two different ethnic cohorts.</p><p><strong>Materials and methods: </strong>We collected stool samples from the Iranian cohort (52 patients and 49 controls) and the Finnish cohort (40 patients and 14 controls). Following stool DNA extraction, we used the AmpliSeq Colon and Lung Cancer panel to prepare DNA libraries before sequencing.</p><p><strong>Results: </strong>The Iranian cohort exhibited 35 hotspot mutations in the <i>BRAF</i>, <i>ERBB4</i>, <i>FBXW7</i>, <i>FGFR1</i>, <i>FGFR3</i>, <i>KRAS</i>, <i>MAP2K</i>, <i>MET</i>, <i>NRAS</i>, <i>PIK3C</i>, <i>SMAD4</i>, and <i>TP53</i> genes. In the Finnish cohort, 13 hotspot mutations were found in the <i>AKT1</i>, <i>APC</i>, <i>KIT</i>, <i>KRAS</i>, <i>SMO</i>, <i>STK11</i>, and <i>TP53</i> genes. Mutations in <i>NRAS</i> and <i>FGFR3</i> were observed only in the Iranian cohort, while <i>APC</i> mutations were exclusive for the Finnish cohort.</p><p><strong>Conclusion: </strong>Genes involved in MAPK and PI3K-MAPK pathways showed a higher frequency of mutations in Iranian patients which may have therapeutic implications.</p>\",\"PeriodicalId\":50062,\"journal\":{\"name\":\"Journal of Research in Medical Sciences\",\"volume\":\"29 \",\"pages\":\"4\"},\"PeriodicalIF\":1.5000,\"publicationDate\":\"2024-01-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10956560/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Research in Medical Sciences\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.4103/jrms.jrms_208_23\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"MEDICINE, GENERAL & INTERNAL\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Research in Medical Sciences","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.4103/jrms.jrms_208_23","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
The frequency of NRAS mutation in stool samples of Iranian colorectal cancers compared to Finnish patients.
Background: Stools from colorectal cancer patients are noninvasive samples that could be used to compare the frequency of hotspot mutations between two different ethnic cohorts.
Materials and methods: We collected stool samples from the Iranian cohort (52 patients and 49 controls) and the Finnish cohort (40 patients and 14 controls). Following stool DNA extraction, we used the AmpliSeq Colon and Lung Cancer panel to prepare DNA libraries before sequencing.
Results: The Iranian cohort exhibited 35 hotspot mutations in the BRAF, ERBB4, FBXW7, FGFR1, FGFR3, KRAS, MAP2K, MET, NRAS, PIK3C, SMAD4, and TP53 genes. In the Finnish cohort, 13 hotspot mutations were found in the AKT1, APC, KIT, KRAS, SMO, STK11, and TP53 genes. Mutations in NRAS and FGFR3 were observed only in the Iranian cohort, while APC mutations were exclusive for the Finnish cohort.
Conclusion: Genes involved in MAPK and PI3K-MAPK pathways showed a higher frequency of mutations in Iranian patients which may have therapeutic implications.
期刊介绍：
Journal of Research in Medical Sciences, a publication of Isfahan University of Medical Sciences, is a peer-reviewed online continuous journal with print on demand compilation of issues published. The journal’s full text is available online at http://www.jmsjournal.net. The journal allows free access (Open Access) to its contents and permits authors to self-archive final accepted version of the articles on any OAI-compliant institutional / subject-based repository.
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