A Pilot Study Based on the Correlation Between Whole Exome and Transcriptome Reveals Potent Variants in the Indian Population of Cervical Cancer.

Autor: Duppala SK; School of Bioengineering and Biosciences, Lovely Professional University, Phagwara, Jalandhar, India., Poleboyina PK; Department of Genetics and Biotechnology, University College of Science, Osmania University, Hyderabad, Telangana 500007 India., Kour B; School of Bioengineering and Biosciences, Lovely Professional University, Phagwara, Jalandhar, India., Bale G; Department of Genetics and Biotechnology, University College of Science, Osmania University, Hyderabad, Telangana 500007 India., Vyas A; School of Bioengineering and Biosciences, Lovely Professional University, Phagwara, Jalandhar, India., Pawar SC; Department of Genetics and Biotechnology, University College of Science, Osmania University, Hyderabad, Telangana 500007 India., Suravajhala PN; Amrita School of Biotechnology, Amrita Vishwa Vidyapeetham, Amritapuri, Clappana, Kerala 690525 India.; Bioclues.org, Hyderabad, Telangana India., Vuree S; GenepoweRx, K&H Personalized Medicine Clinic, Jubilee Hills, Hyderabad, Telangana 500033 India.; Bioclues.org, Hyderabad, Telangana India.
Jazyk: angličtina
Zdroj: Indian journal of microbiology [Indian J Microbiol] 2024 Sep; Vol. 64 (3), pp. 1222-1245. Date of Electronic Publication: 2024 May 20.
DOI: 10.1007/s12088-024-01295-6
Abstrakt: Cervical malignancy (CC) is the 2nd most prevalent malignancy among females, leading to cancer mortality. Primary detection of CC tumors results in an improved prognosis. CC is a malignant gynecological tumor, with few treatment options. New diagnostic and therapeutic agents are required to expand patient survival and quality of life. If CC tumors can be found at an early stage, the prognosis is much brighter. New diagnostic and therapeutic agents are needed to increase patient survival and quality of life. In this work, we performed whole-exome sequencing utilizing V5 (Illumina platform) 10 samples, 5 control and 5 CC tumour tissue, and we compared the results with transcriptome studies. KMT2C variations were shown to be among the most vicious in this analysis. From an Indian viewpoint, we found a plethora of SNVs and mutations, including those with known, unknown, and possible effects on health. Based on our findings, we know that the KMT2C gene is on chr. Seven and in exon 8, all three recognized variants are missense, synonymous, coding synonymous, non-coding variants, and GnomAD MAF (- 0.05). The variation at position (7:152265091, T > A, SNV 62478356) in KMT2C is unique, potent, and pathogenic. The missense coding transcript CIQTNF maps to chromosome 7 and displays T > C SNV. In addition, we performed single strand conformational polymorphism analysis on 64 samples and further confirmed them using Sanger sequencing to understand and verify the mutations. KMT2C shows a log FC value of - 1.16. Understanding emerging harmful mutations from an Indian viewpoint is facilitated by our bioinformatics-based, extensive correlation studies of WES analysis. Potentially harmful and new mutations were found in our preliminary analysis; among these ten top mutated genes, KMT2C and CIQTNF were altered in ten cases of CC with an Indian phenotype.
Competing Interests: Conflict of interestThe authors didn’t have any competing interests.
(© Association of Microbiologists of India 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)
Databáze: MEDLINE
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