Gene Mutation Analysis in Colorectal Cancer: Identification of Critical Genetic Drivers and Their Role in Tumor Development

Authors

  • Ashwin Vijayaraghavan Hamilton High School
  • Dr. Prahlad Parajuli Wayne State University
  • Prof. Virgel Torremocha University of Southeastern Philippines
  • Jothsna Kethar Gifted Gabber

DOI:

https://doi.org/10.47611/jsrhs.v14i1.8987

Keywords:

Colorectal Cancer, Genes, Gene Therapy, Genetic Drivers, Clinical Trials

Abstract

Colorectal cancer (CRC) remains one of the leading causes of cancer-related mortality worldwide, with complex genetic factors contributing to its development. This study focuses on analyzing specific gene mutations associated with colorectal cancer to identify key genetic drivers that influence tumorigenesis. By utilizing high-throughput sequencing data and bioinformatics approaches, we aim to detect recurrent mutations in oncogenes, tumor suppressor genes, and regulatory elements implicated in CRC. Through correlation studies between identified genetic alterations and tumor characteristics, this research seeks to clarify the functional role of these mutations in promoting colorectal tumor progression. The findings could contribute to precision medicine approaches, offering insights for potential targeted therapies and improved diagnostic methods in colorectal cancer.

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Author Biography

Dr. Prahlad Parajuli, Wayne State University

Research Assistant Professor

References or Bibliography

Works Cited

A Home-Based Approach Study to Evaluate the Efficacy and Safety of Alectinib in Locally-Advanced or Metastatic ALK-Positive Solid Tumors (ALpha-T). (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT04644315?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=12&tab=results

A Study to Evaluate Rucaparib in Participants With Solid Tumors and With Deleterious Mutations in HRR Genes (LODESTAR). (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT04171700?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=5&tab=results

Cancer Vaccine Targeting Brachyury Protein in Tumors. (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT01519817?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=7&tab=results

CDC. (2024, May 9). Screening for Colorectal Cancer. Colorectal Cancer. https://www.cdc.gov/colorectal-cancer/screening/index.html

Cetuximab and Capecitabine in Treating Patients With Metastatic Colorectal Cancer That Failed Irinotecan Treatment. (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT00538291?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=3&tab=results

Combination Chemotherapy and Cetuximab or Bevacizumab in Treating Patients With Metastatic Colorectal Cancer. (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT01280643?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=9&tab=results

Das, S. K., Menezes, M. E., Bhatia, S., Wang, X.-Y., Emdad, L., Sarkar, D., & Fisher, P. B. (2014). Gene Therapies for Cancer: Strategies, Challenges and Successes. Journal of Cellular Physiology, 230(2), 259–271. https://doi.org/10.1002/jcp.24791

Eneh et al. (2016). MicroRNAs Associated With Biological Pathways of Left- and Right-sided Colorectal Cancer. Iiarjournals.org. https://ar.iiarjournals.org/content/40/7/3713

Everolimus in Treating Patients With Advanced or Metastatic Colorectal Cancer That Did Not Respond to Previous Therapy. (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT00390364?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=1&tab=results

FDA. (2022). How Gene Therapy Can Cure or Treat Diseases. FDA. https://www.fda.gov/consumers/consumer-updates/how-gene-therapy-can-cure-or-treat-diseases

Hossain, Md. S., Karuniawati, H., Jairoun, A. A., Urbi, Z., Ooi, D. J., John, A., Lim, Y. C., Kibria, K. M. K., Mohiuddin, A. K. M., Ming, L. C., Goh, K. W., & Hadi, M. A. (2022). Colorectal Cancer: A Review of Carcinogenesis, Global Epidemiology, Current Challenges, Risk Factors, Preventive and Treatment Strategies. Cancers, 14(7), 1732. https://doi.org/10.3390/cancers14071732

Munteanu, I., & B Mastalier. (2014). Genetics of colorectal cancer. Journal of Medicine and Life, 7(4), 507. https://pmc.ncbi.nlm.nih.gov/articles/PMC4316127/

Pertuzumab and Cetuximab in Treating Patients With Previously Treated Locally Advanced or Metastatic Colorectal Cancer. (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT00551421?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=10&tab=results

Pilot Study of GVAX in Colorectal Cancer Cells. (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT01952730?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=2&tab=results

Safety and Efficacy Study of ALT-801 to Treat Progressive Metastatic Malignancies. (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT00496860?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=11&tab=results

Screening Tests to Detect Colorectal Cancer and Polyps - NCI. (2021). Www.cancer.gov. https://www.cancer.gov/types/colorectal/screening-fact-sheet#what-happens-if-a-colorectal-cancer-screening-test-finds-an-abnormality

T Cell Receptor Immunotherapy Targeting HPV-16 E6 for HPV-Associated Cancers. (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT02280811?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=6&tab=results

Talimogene Laherparepvec, Chemotherapy, and Radiation Therapy Before Surgery in Treating Patients With Locally Advanced or Metastatic Rectal Cancer. (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT03300544?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=13&tab=results

Testing Trastuzumab and Pertuzumab in Patients With Higher Than Normal Copies of the HER2 Gene Found in Their Tumors (MATCH - Subprotocol J). (2024). Clinicaltrials.gov. https://clinicaltrials.gov/study/NCT06136897?locStr=United%20States&country=United%20States&cond=Colorectal%20Cancer&term=Gene&intr=gene%20therapy&limit=50&aggFilters=results:with&rank=4&tab=results

Published

02-28-2025

How to Cite

Vijayaraghavan, A., Parajuli, P., Torremocha, V., & Kethar, J. (2025). Gene Mutation Analysis in Colorectal Cancer: Identification of Critical Genetic Drivers and Their Role in Tumor Development. Journal of Student Research, 14(1). https://doi.org/10.47611/jsrhs.v14i1.8987

Issue

Section

HS Research Articles