Title: Detecting driver mutations in colorectal cancer through big data analysis

Authors: Amna Amin Sethi; Saad Khan; Fatima Hashmi; Saim Ali Akber

Addresses: NED University LEJ Campus, 81-A, Block-3, Memom Co-operative Housing Society, Karachi, Pakistan ' NED University LEJ Campus, 81-A, Block-3, Memom Co-operative Housing Society, Karachi, Pakistan ' NED University LEJ Campus, 81-A, Block-3, Memom Co-operative Housing Society, Karachi, Pakistan ' NED University LEJ Campus, 81-A, Block-3, Memom Co-operative Housing Society, Karachi, Pakistan

Abstract: Colorectal cancer (CRC) is a complex disease causing a significant challenge to global health with profound impacts on morbidity and mortality. There is a need to identify genetic biomarkers for early diagnosis of disease. In this study, a comprehensive analysis of CRC genomes was conducted to identify consistent mutations in both coding and non-coding highlighting their pivotal role in CRC pathogenesis. The results of this study revealed consistent mutations in coding regions that validated known CRC driver genes. The consistent non-coding mutations were also identified within transcription factors binding sites (TFBS) in CRC cell lines. The statistical significance of these mutations suggests their potential impact on gene regulation leading to the development and progression of CRC. They might act as potential biomarkers for early diagnosis of the disease. To conclude, the findings of this study might provide novel therapeutic targets and diagnostic markers for personalised medicine.

Keywords: colorectal cancer; CRC; driver mutations; driver genes; biomarkers; transcription factors binding sites; TFBS.

DOI: 10.1504/IJDMMM.2024.142596

International Journal of Data Mining, Modelling and Management, 2024 Vol.16 No.4, pp.420 - 442

Received: 13 Feb 2024
Accepted: 03 Apr 2024
Published online: 11 Nov 2024 *

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