The utility of the Ion Torrent PGM next generation sequencing for analysis of the most commonly mutated genes among patients with colorectal cancer in India

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dc.contributor.authorMehra, Simmien_US
dc.contributor.authorTiwari, Aseem Kumaren_US
dc.contributor.authorMehta, Swati Pabbien_US
dc.contributor.authorSachdev, Riteshen_US
dc.contributor.authorRajvanshi, Chhavien_US
dc.contributor.authorChauhan, Rajnien_US
dc.contributor.authorSaini, Abhisheken_US
dc.contributor.authorVaid, Ashoken_US
dc.date.accessioned2023-08-09T06:04:07Z
dc.date.available2023-08-09T06:04:07Z
dc.date.issued2022-06
dc.description.abstractBackground: The requirement for the mutation analysis for Kirsten rat sarcoma viral oncogene (KRAS) in colorectal cancer (CRC) is rapidly increasing as it is a predictive biomarker and also, its absence signifies response to anti?epidermal growth factor receptor (anti?EGFR) antibody treatment. The aim of our study was to investigate the pathological diagnosis and distribution of KRAS mutations in colorectal cancer with the use of next generation sequencing platform (Ion Torrent). Methods: A total of 56 CRC samples were tested to identify the genetic mutations, especially KRAS using the primers which included ~2800 COSMIC mutations of 50 oncogenes. Ion Torrent personal genome machine (semiconductor?based sequencing) was used for the sequencing and analysis. Along with KRAS, other 49 genes were also studied for COSMIC mutations. Results: KRAS mutation 25 (44.6%) had the highest frequency, followed by TP53 10 (17.9%) and PIK3CA mutation 4 (7.1%). Of all the KRAS mutations identified, mutations in codon 12 were most frequent followed by mutations in codon 13 and 61. The most frequent substitution was glycine to aspartate mutation in codon 12 (p.Gly12Asp) followed by glycine to valine (p.Gly12Val). Combinations of mutations were also studied. Our study revealed that seven cases (12.5%) had both KRAS and TP53 mutations (highest of all the combinations). Conclusion: The analysis of KRAS mutation frequency and its mutational subtype analysis in human CRCs by using semiconductor?based platform in routine clinical practices have been performed in Indian population. The findings were similar to earlier published reports from the Western literature.en_US
dc.identifier.affiliationsMolecular and Transplant Immunology Laboratory, Department of Transfusion Medicineen_US
dc.identifier.affiliationsDepartment of Histopathologyen_US
dc.identifier.affiliationsDepartment of Medical and Haemato Oncology, Medanta-The Medicity, Gurgaon, Haryana, Indiaen_US
dc.identifier.citationMehra Simmi, Tiwari Aseem Kumar, Mehta Swati Pabbi, Sachdev Ritesh, Rajvanshi Chhavi, Chauhan Rajni, Saini Abhishek, Vaid Ashok. The utility of the Ion Torrent PGM next generation sequencing for analysis of the most commonly mutated genes among patients with colorectal cancer in India. Indian Journal of Cancer . 2022 Jun; 59(2): 218-222en_US
dc.identifier.issn0019-509X
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/221675
dc.languageenen_US
dc.publisherWolters Kluwer - Medknowen_US
dc.relation.issuenumber2en_US
dc.relation.volume59en_US
dc.source.urihttps://doi.org/10.4103/ijc.IJC_723_19en_US
dc.subjectColorectal cancer|DNA sequencingen_US
dc.subjectK?Ras proteinen_US
dc.titleThe utility of the Ion Torrent PGM next generation sequencing for analysis of the most commonly mutated genes among patients with colorectal cancer in Indiaen_US
dc.typeJournal Articleen_US
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