Illustration of DNA strands with damaged segments, representing frameshift mutations in cancer cells.

Decoding Colon Cancer: How Gene Mutations Could Lead to New Treatments

Beau Callahan in Health & Wellness December 2025 • 4 min read.

"New research uncovers frameshift mutations in key genes within colon cancer cells, opening doors for targeted therapies and personalized medicine."

Colon cancer is a formidable foe, but new research is shedding light on its weaknesses. Scientists are diving deep into the genetic makeup of colon cancer cells, seeking vulnerabilities that could be exploited with new therapies. The goal is to find ways to stop the disease in its tracks and improve outcomes for those affected.

One area of intense investigation is the role of gene mutations. Genes are the blueprints for our cells, and when they mutate, cells can behave abnormally, leading to diseases like cancer. Certain genes, known as tumor suppressor genes, normally keep cell growth in check. When these genes are inactivated by mutations, cancer can arise. Understanding these mutations is crucial for developing targeted treatments.

Recent research has focused on frameshift mutations—tiny errors in the genetic code that can have a big impact. These mutations occur when the DNA sequence is disrupted, causing the genetic code to be read incorrectly. This can lead to non-functional proteins, effectively turning off key cellular processes. A study published in Pathology and Oncology Research has identified specific frameshift mutations in a set of genes within colon cancer cells, offering new insights into how the disease develops and potential avenues for treatment.

What Genes Are Involved and What Do They Do?

Illustration of DNA strands with damaged segments, representing frameshift mutations in cancer cells.

The study examined over 120 colorectal cancer (CRC) samples, both with high microsatellite instability (MSI-H) and microsatellite stable (MSS) characteristics. Microsatellite instability refers to a condition where the DNA within cells has a higher-than-normal mutation rate, which can occur in certain cancers. Researchers looked for frameshift mutations in ten different genes:

These genes play various roles in cellular function, and several of them are believed to act as tumor suppressors:

ANK3: Supports cell survival by preventing detachment-induced apoptosis (cell death).
TP53BP1: Interacts with the p53 protein, a well-known tumor suppressor, contributing to its function.
MFN1: Encodes a mitochondrial membrane protein involved in mitochondrial fusion and apoptosis (programmed cell death).
HACD4 & TCPL10: Involved in fatty acid synthesis and transcription regulation, respectively; both considered potential tumor suppressors.
LCMT2, RNMT, TRMT6, METTL8, METTL16: These genes participate in DNA methylation, a process often disrupted in cancer.

The researchers discovered frameshift mutations in several of these genes within the MSI-H colon cancer samples. Specifically, ANK3, HACD4, TP53BP1, MFN1, LCMT2, RNMT, TRMT6, METTL8, and METTL16 all showed mutations in the MSI-H group. Notably, no such mutations were found in the MSS samples.

What's Next? Translating Findings Into Improved Treatments

This research offers a promising glimpse into the genetic vulnerabilities of colon cancer. By understanding which genes are mutated and how these mutations disrupt cellular function, scientists can develop more targeted and effective therapies. For instance, drugs could be designed to restore the function of these tumor suppressor genes or to target cancer cells that have these specific mutations. While more research is needed, these findings represent a significant step forward in the fight against colon cancer, potentially leading to personalized treatment strategies that improve patient outcomes.

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Everything You Need To Know

What are frameshift mutations and why are they important in colon cancer?

Frameshift mutations are essentially tiny errors in the genetic code where the DNA sequence is disrupted. When these frameshift mutations occur, the genetic code is misread, potentially leading to the production of non-functional proteins. This disruption can effectively disable key cellular processes, including the function of tumor suppressor genes that normally regulate cell growth. These mutations are significant because they can drive the development of diseases such as colon cancer.

What is microsatellite instability, and how does it relate to colon cancer?

Microsatellite instability (MSI) is a condition where the DNA within cells exhibits a higher-than-normal mutation rate. This instability is important because it often occurs in certain types of cancer, including colon cancer, especially those with high microsatellite instability (MSI-H). MSI-H colon cancers have a greater tendency to accumulate frameshift mutations in specific genes compared to microsatellite stable (MSS) colon cancers. Identifying MSI status can help predict how a tumor might respond to certain treatments, such as immunotherapy.

Which specific genes are often mutated in colon cancer, and what roles do they play in the cell?

The genes ANK3, TP53BP1, MFN1, HACD4, TCPL10, LCMT2, RNMT, TRMT6, METTL8, and METTL16 are involved in various cellular functions, and several of them are believed to act as tumor suppressors, with ANK3 supporting cell survival by preventing detachment-induced apoptosis, and TP53BP1 interacting with the p53 protein, a well-known tumor suppressor, contributing to its function. The genes LCMT2, RNMT, TRMT6, METTL8, and METTL16 participate in DNA methylation. When these genes experience mutations, cellular processes can be disrupted, potentially leading to cancer development.

What are tumor suppressor genes, and why are they important in preventing cancer?

Tumor suppressor genes are genes that normally regulate cell growth and prevent cells from dividing uncontrollably. These genes are critical in preventing cancer. When tumor suppressor genes are inactivated by mutations, such as frameshift mutations, they lose their ability to control cell growth, which can lead to the development of tumors. Examples of genes believed to act as tumor suppressors include TP53BP1, HACD4, and TCPL10.

What are targeted therapies, and how could they be used to treat colon cancer?

Targeted therapies aim to selectively attack cancer cells based on their unique genetic or molecular characteristics. This approach is significant because it can potentially minimize damage to healthy cells, reducing side effects compared to traditional chemotherapy. By identifying specific frameshift mutations in genes like ANK3, TP53BP1, MFN1, HACD4, TCPL10, LCMT2, RNMT, TRMT6, METTL8, and METTL16, researchers can develop drugs that specifically target cancer cells with these mutations, potentially improving treatment outcomes for colon cancer patients.