Identification of Genetic Biomarkers 
for Colorectal Cancer Risk in Inflammatory Bowel Disease in Patients

Author: Arav Shelat¹, Francesca Perrone, Ph.D.²
Affiliation: ¹Jericho High School, Jericho, New York, USA
² Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK

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Abstract:

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Inflammatory bowel disease (IBD) is a chronic condition associated with an increased risk of colorectal cancer (CRC), driven by inflammation-induced genetic mutations. This study identifies genetic biomarkers linking IBD to CRC and explores their functional roles in cancer progression. Publicly available datasets were analyzed, including whole-genome sequencing data from IBD patients (Olafsson et al., 2020) and CRISPR-Cas9 knockout screens from the Cancer Dependency Map (DepMap). Somatic mutations from 446 colonic crypts of IBD patients and 412 non-IBD controls were assessed and cross-referenced with The Cancer Genome Atlas (TCGA) to determine oncogenic significance. Functional relevance was evaluated through dependency scores derived from CRISPR knockout screens of 61 CRC-relevant cell lines, with statistical analyses including Fisher’s Exact Test and multivariate regression models. Seven genes—ARID2, FBXW7, IL17RA, MYH11, PIGR, ZC3H12A, and ZNF521—were identified as high-priority biomarkers. These genes exhibited higher mutation rates in IBD patients and played critical roles in CRC cell survival. ARID2 and FBXW7, involved in chromatin remodeling and cell cycle regulation, showed synergistic effects on cancer progression. IL17RA and ZC3H12A contributed to immune modulation and inflammation-driven oncogenesis. This study highlights molecular mechanisms linking IBD to CRC and explores the influence of epigenetic and environmental factors. The identified biomarkers offer potential targets for therapeutic interventions, aiding in personalized approaches for CRC prevention and treatment in high-risk IBD populations.

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Keywords: IBD, colorectal cancer, biomarkers, CRISPR

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How to Cite: 

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APA

Shelat, A., & Perrone, F. (2025). Identification of genetic biomarkers for colorectal cancer risk in inflammatory bowel disease in patients. Princeton Journal of Interdisciplinary Research, 1(2). Retrieved from https://pjir.org/articles/identification-genetic-biomarkers-colorectal-cancer

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MLA

Shelat, Arav, and Francesca Perrone, Ph.D. “Identification of Genetic Biomarkers for Colorectal Cancer Risk in Inflammatory Bowel Disease in Patients.” Princeton Journal of Interdisciplinary Research, vol. 1, no. 2, Dec. 2025, https://pjir.org/articles/identification-genetic-biomarkers-colorectal-cancer.

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Chicago

Shelat, Arav, and Francesca Perrone. “Identification of Genetic Biomarkers for Colorectal Cancer Risk in Inflammatory Bowel Disease in Patients.” Princeton Journal of Interdisciplinary Research 1, no. 2 (December 2025). https://pjir.org/articles/identification-genetic-biomarkers-colorectal-cancer.

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Harvard

Shelat, A. and Perrone, F. (2025) ‘Identification of genetic biomarkers for colorectal cancer risk in inflammatory bowel disease in patients’, Princeton Journal of Interdisciplinary Research, 1(2). Available at: https://pjir.org/articles/identification-genetic-biomarkers-colorectal-cancer.