Colon Cancer: New Genetic Risk Factors Identified | Vanderbilt Study
- Researchers have identified new genetic factors that may increase a person’s risk of developing colon and rectal cancer, collectively known as colorectal cancer.
- Colorectal cancer remains a significant public health concern.
- The Vanderbilt-Ingram Cancer Center researchers employed a technique called transcriptomic-wide association study (TWAS) to address this gap.
Researchers have identified new genetic factors that may increase a person’s risk of developing colon and rectal cancer, collectively known as colorectal cancer. The findings, published in the issue of the Journal of the National Cancer Institute, could lead to improved prevention and treatment strategies for this prevalent malignancy.
Understanding the Genetic Landscape of Colorectal Cancer
Colorectal cancer remains a significant public health concern. According to the American Cancer Society, It’s one of the leading causes of cancer-related deaths in the United States. While lifestyle factors like diet and physical activity play a role, a substantial portion of colorectal cancer cases are linked to genetic predisposition. Genome-wide association studies (GWAS) have identified over 200 common genetic variants associated with the disease, but pinpointing the specific genes responsible and understanding the underlying biological mechanisms has proven challenging. These identified variants only explain about half of the heritability of colorectal cancer, indicating that many more genetic factors remain to be discovered.
The Vanderbilt-Ingram Cancer Center researchers employed a technique called transcriptomic-wide association study (TWAS) to address this gap. TWAS examines the relationship between genetic variations and gene expression levels, helping to identify genes that directly influence disease risk. To strengthen their findings, they also utilized a complementary approach called splicing-TWAS, which focuses on how genetic variations affect the way genes are spliced – a crucial process in gene expression. Splicing-TWAS is a relatively new method and has been largely unexplored in the context of colorectal cancer.
New Genes Linked to Increased Risk
Through their analysis, the researchers identified two previously unreported genes, TRPSI and METRNL, as potential contributors to colorectal cancer development. They also confirmed the role of another recently reported gene, C14orfl66, in increasing susceptibility to the disease. “To identify novel susceptibility genes for colorectal cancer, ongoing efforts are necessary,” explained Dr. Xingyi Guo, PhD, associate professor of Medicine and of Biomedical Informatics at Vanderbilt University, and the study’s senior author. “In our study, we utilized new large RNA-seq data and employed the TWAS approach along with splicing-TWAS to enhance novel gene discovery.”
The identification of these genes is a crucial step towards understanding the complex genetic basis of colorectal cancer. Further research is needed to fully elucidate the specific roles of TRPSI and METRNL in the disease process. Understanding these roles could pave the way for the development of targeted therapies or preventative measures for individuals at higher genetic risk.
The Importance of Clinical Trials
Vanderbilt-Ingram Cancer Center is actively involved in developing new and improved cancer care options through clinical trials. These trials are designed to evaluate the safety and effectiveness of new drugs, treatments, and techniques. Clinical trials can also help identify individuals who are most likely to benefit from specific therapies, and can contribute to a better understanding of disease mechanisms. The center offers a wide range of trials, with expert specialists and a dedicated support team to guide patients through the process.
The goals of a clinical trial extend beyond simply finding cures. They also aim to identify diseases, control or manage symptoms, prevent illness, and assess the overall safety and efficacy of new interventions. Participation in clinical trials is a valuable opportunity for patients to contribute to advancements in cancer research and potentially benefit from cutting-edge treatments.
Risk Factors and Prevention
While genetic factors play a role, it’s important to remember that many colorectal cancer cases are linked to modifiable risk factors. These include excess body weight, type 2 diabetes, and a diet high in red and processed meats. Maintaining a healthy weight, engaging in regular physical activity, and adopting a balanced diet rich in fruits, vegetables, and whole grains can all help reduce risk.
Individuals with a family history of colorectal cancer or other risk factors should discuss screening options with their healthcare provider. Early detection through screening tests like colonoscopy can significantly improve treatment outcomes. The American Cancer Society provides detailed information on risk factors and prevention strategies for colorectal cancer.
The ongoing research at institutions like Vanderbilt-Ingram Cancer Center, combined with a focus on lifestyle modifications and early detection, offers hope for reducing the burden of colorectal cancer and improving the lives of those affected by this disease.