Background The diversity of colon cancer treatments allows the potential personalization of regimens for individuals, such as existing targeted therapies for mutations in BRAF, KRAS, and PIK3CA. While studies have analyzed patient responses to colon cancer therapies based on genetic mutations in a handful of genes, our research takes a comprehensive approach by examining the interplay between a larger set of mutated cancer-critical genes and treatment options. This project aims to explore the relationships between colon cancer mutations, treatment plans, and responses to determine how genetic mutations influence the outcomes to certain regimens.

Methods Clinical data for 181 colon cancer patients was obtained from the Prisma Health Cancer Institute’s Biorepository derived from EPIC®. The mutation status of 50 cancer-critical genes in those patients was determined through multiplex PCR using Ion Ampliseq Cancer Hotspot panel v2 by Precision Genetics and USC Functional Genomics Core. During analysis, multiple rounds of treatment were subdivided, with a single data observation corresponding to the applied treatment regimen and response for each round. Data analysis was performed using Microsoft Excel and R (version 4.4.2) to assess patient demographics, frequencies of mutations, and treatment regimens.

Results The most frequently mutated genes in this group of colon cancer patients were TP53 (54.1%), KRAS (37.6%), APC (33.7%), KDR (29.8%), and PIK3CA (25.4%). A greater proportion of Black patients had mutated JAK3 compared to White patients (p < 0.001), with 88.9% of Black patients having a p.Pro132Thr JAK3 mutation. FOLFOX (fluorouracil, leucovorin, oxaplatin) treatment alone was utilized in 23.9% of the colon cancer therapies, capecitabine in 14.9%, FOLFOX + bevacizumab in 11.7%, FOLFIRI (fluoruracil, irinotecan, leucovorin) in 7.2%, and the remaining treatment regimens being comprised of various combinations of these therapies alongside other chemotherapeutic drugs.

Conclusion Our preliminary analysis shows the variety of genes mutated in the colon cancer dataset, highlighting the predominance of TP53, KRAS, and APC. This supports the frequencies of mutated genes observed in previous studies, reinforcing the dataset’s quality and potential for ongoing analysis. The higher frequency of JAK3 mutations in Black patients sparks interest and requires further exploration, as JAK3 is rarely discussed in prior literature in the setting of colon cancer but has been associated with poorer outcomes in other solid tumors such as gastric. As we continue our research, we aim to identify correlations between mutated genes, treatments, and patient outcomes in an effort to pave the way for improving therapeutic strategies.