Çağdaş Gökhun Özmerdiven , Ebubekir Dirican , Semih Ayan , Zeynep Tatar , Sami Çakır , Yavuz Güler , Abdullah Karadağ , Tuğba Soydaş , Sevgi Karabulut Uzunçakmak , Melek Aru , Gönül Kanigur , Ahmet İlvan
{"title":"HRM法鉴定人类前列腺癌患者TP53外显子5和8突变","authors":"Çağdaş Gökhun Özmerdiven , Ebubekir Dirican , Semih Ayan , Zeynep Tatar , Sami Çakır , Yavuz Güler , Abdullah Karadağ , Tuğba Soydaş , Sevgi Karabulut Uzunçakmak , Melek Aru , Gönül Kanigur , Ahmet İlvan","doi":"10.1016/j.mgene.2022.101020","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><p>The purpose of the present study was to perform a high-resolution melting (HRM) analysis to discover mutations in gene exons 5–8 of tumor protein p53 (<em>TP53</em>), as well as the relationships of these mutations to clinical parameters in prostate cancer (PC).</p></div><div><h3>Methods</h3><p><span>Genomic DNA was extracted from 50 formalin-fixed paraffin-embedded (FFPE) tissues with PC. Mutations in exons 5 and 8 of </span><em>TP53</em> were analyzed using the HRM method. Sanger sequencing was used to describe mutations.</p></div><div><h3>Results</h3><p>According to the HRM analysis results, 21 (42%) PC samples had different normalized and shifted melting curves from other samples. Mutations in <em>TP53</em> exons 5 and8 were observed in 12 (24%) patients by the Sanger method. The detection sensitivity of the HRM method in exon 5 and exon 8 mutations was 66.7% and 50%, respectively. PSA levels of PC patients with <em>TP53</em> mutation were found to be lower than that of patients with no mutation (<em>p</em> = 0.8270). However, we did not find any correlations between <em>TP53</em> mutations and clinical parameters (<em>p</em> > 0.05).</p></div><div><h3>Conclusions</h3><p>HRM analysis is a simple, rapid, and efficient mutation-scanning method for known/unknown mutations in <em>TP53</em> exons 5and8, as well as an attractive method for detection of mutations and their analysis in FFPE tissues. Additional studies with larger patient populations are warranted to confirm the correlation between the <em>TP53</em> mutations and PC risk.</p></div>","PeriodicalId":38190,"journal":{"name":"Meta Gene","volume":"31 ","pages":"Article 101020"},"PeriodicalIF":0.8000,"publicationDate":"2022-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"HRM method for identification of TP53 exon 5 and 8 mutations in human prostate cancer patients\",\"authors\":\"Çağdaş Gökhun Özmerdiven , Ebubekir Dirican , Semih Ayan , Zeynep Tatar , Sami Çakır , Yavuz Güler , Abdullah Karadağ , Tuğba Soydaş , Sevgi Karabulut Uzunçakmak , Melek Aru , Gönül Kanigur , Ahmet İlvan\",\"doi\":\"10.1016/j.mgene.2022.101020\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><p>The purpose of the present study was to perform a high-resolution melting (HRM) analysis to discover mutations in gene exons 5–8 of tumor protein p53 (<em>TP53</em>), as well as the relationships of these mutations to clinical parameters in prostate cancer (PC).</p></div><div><h3>Methods</h3><p><span>Genomic DNA was extracted from 50 formalin-fixed paraffin-embedded (FFPE) tissues with PC. Mutations in exons 5 and 8 of </span><em>TP53</em> were analyzed using the HRM method. Sanger sequencing was used to describe mutations.</p></div><div><h3>Results</h3><p>According to the HRM analysis results, 21 (42%) PC samples had different normalized and shifted melting curves from other samples. Mutations in <em>TP53</em> exons 5 and8 were observed in 12 (24%) patients by the Sanger method. The detection sensitivity of the HRM method in exon 5 and exon 8 mutations was 66.7% and 50%, respectively. PSA levels of PC patients with <em>TP53</em> mutation were found to be lower than that of patients with no mutation (<em>p</em> = 0.8270). However, we did not find any correlations between <em>TP53</em> mutations and clinical parameters (<em>p</em> > 0.05).</p></div><div><h3>Conclusions</h3><p>HRM analysis is a simple, rapid, and efficient mutation-scanning method for known/unknown mutations in <em>TP53</em> exons 5and8, as well as an attractive method for detection of mutations and their analysis in FFPE tissues. Additional studies with larger patient populations are warranted to confirm the correlation between the <em>TP53</em> mutations and PC risk.</p></div>\",\"PeriodicalId\":38190,\"journal\":{\"name\":\"Meta Gene\",\"volume\":\"31 \",\"pages\":\"Article 101020\"},\"PeriodicalIF\":0.8000,\"publicationDate\":\"2022-02-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Meta Gene\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2214540022000111\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Meta Gene","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2214540022000111","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
HRM method for identification of TP53 exon 5 and 8 mutations in human prostate cancer patients
Background
The purpose of the present study was to perform a high-resolution melting (HRM) analysis to discover mutations in gene exons 5–8 of tumor protein p53 (TP53), as well as the relationships of these mutations to clinical parameters in prostate cancer (PC).
Methods
Genomic DNA was extracted from 50 formalin-fixed paraffin-embedded (FFPE) tissues with PC. Mutations in exons 5 and 8 of TP53 were analyzed using the HRM method. Sanger sequencing was used to describe mutations.
Results
According to the HRM analysis results, 21 (42%) PC samples had different normalized and shifted melting curves from other samples. Mutations in TP53 exons 5 and8 were observed in 12 (24%) patients by the Sanger method. The detection sensitivity of the HRM method in exon 5 and exon 8 mutations was 66.7% and 50%, respectively. PSA levels of PC patients with TP53 mutation were found to be lower than that of patients with no mutation (p = 0.8270). However, we did not find any correlations between TP53 mutations and clinical parameters (p > 0.05).
Conclusions
HRM analysis is a simple, rapid, and efficient mutation-scanning method for known/unknown mutations in TP53 exons 5and8, as well as an attractive method for detection of mutations and their analysis in FFPE tissues. Additional studies with larger patient populations are warranted to confirm the correlation between the TP53 mutations and PC risk.
Meta GeneBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
1.10
自引率
0.00%
发文量
20
期刊介绍:
Meta Gene publishes meta-analysis, polymorphism and population study papers that are relevant to both human and non-human species. Examples include but are not limited to: (Relevant to human specimens): 1Meta-Analysis Papers - statistical reviews of the published literature of human genetic variation (typically linked to medical conditionals and/or congenital diseases) 2Genome Wide Association Studies (GWAS) - examination of large patient cohorts to identify common genetic factors that influence health and disease 3Human Genetics Papers - original studies describing new data on genetic variation in smaller patient populations 4Genetic Case Reports - short communications describing novel and in formative genetic mutations or chromosomal aberrations (e.g., probands) in very small demographic groups (e.g., family or unique ethnic group). (Relevant to non-human specimens): 1Small Genome Papers - Analysis of genetic variation in organelle genomes (e.g., mitochondrial DNA) 2Microbiota Papers - Analysis of microbiological variation through analysis of DNA sequencing in different biological environments 3Ecological Diversity Papers - Geographical distribution of genetic diversity of zoological or botanical species.