# Signature Gene Mutations in Colorectal Cancer: Potential Neoantigens for Cancer Vaccines

**Authors:** Jaegoo Yoon, Haeun Moon, Yuna Jeon, Soohyun Choe, Hyunho Yoon

PMC · DOI: 10.3390/ijms26104559 · International Journal of Molecular Sciences · 2025-05-09

## TL;DR

This paper reviews signature gene mutations in colorectal cancer and their potential as neoantigens for developing effective cancer vaccines.

## Contribution

The paper highlights the potential of using neoantigens from signature gene mutations in CRC for targeted cancer vaccine development.

## Key findings

- Signature gene mutations in CRC are linked to immune resistance and tumor progression.
- These mutations can generate neoantigens that may be used in cancer vaccines to stimulate immune responses.
- Cancer vaccines targeting these neoantigens are promising for overcoming CRC's resistance to immunotherapy.

## Abstract

Colorectal cancer (CRC), the third most common cancer worldwide, is one of the deadliest cancers. CRC is known as a cold tumor, characterized by a low immune response that makes it difficult for immune cells to infiltrate and exhibits strong resistance to immunotherapy with checkpoint inhibition. This restricted response is largely attributed to signature gene mutations including mismatch repair (MMR) genes, KRAS, BRAF, APC, and TP53, which are also the main oncogenes in CRC. Mutated signature genes continuously upregulate abnormal signaling pathways, leading to excessive proliferation, cancer progression, and metastasis. Furthermore, it reorganizes the tumor microenvironment (TME) by recruiting immunosuppressive cells. However, the mutation can produce neoantigens that can provoke an immune response, making it a potential target for immunotherapy. In particular, cancer vaccines that leverage the strong neoantigenic properties of these mutations are considered promising for overcoming immune resistance and eliciting anti-tumor responses. In this review, we will describe signature gene mutations in CRC and focus on cancer vaccines targeting these mutations as potential therapies for CRC.

## Linked entities

- **Genes:** MRC1 (mannose receptor C-type 1) [NCBI Gene 4360], KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845], BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673], APC (APC regulator of Wnt signaling pathway) [NCBI Gene 324], TP53 (tumor protein p53) [NCBI Gene 7157]
- **Diseases:** colorectal cancer (MONDO:0005575), CRC (MONDO:0005575)

## Full-text entities

- **Genes:** BRAF (B-Raf proto-oncogene, serine/threonine kinase) [NCBI Gene 673] {aka B-RAF1, B-raf, BRAF-1, BRAF1, NS7, RAFB1}, KRAS (KRAS proto-oncogene, GTPase) [NCBI Gene 3845] {aka 'C-K-RAS, C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A}, TP53 (tumor protein p53) [NCBI Gene 7157] {aka BCC7, BMFS5, LFS1, P53, TRP53}, APC (APC regulator of Wnt signaling pathway) [NCBI Gene 324] {aka BTPS2, DESMD, DP2, DP2.5, DP3, GS}
- **Diseases:** Cancer (MESH:D009369), metastasis (MESH:D009362), CRC (MESH:D015179)

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12111162/full.md

## References

162 references — full list in the complete paper: https://tomesphere.com/paper/PMC12111162/full.md

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Source: https://tomesphere.com/paper/PMC12111162