A recent study conducted by researchers from the Johns Hopkins Kimmel Cancer Centre, the Johns Hopkins Bloomberg School of Public Health, and Foundation Medicine has shed light on the role of a gene linked to colorectal cancer in the development of other solid tumors. The gene in question, MUTYH, is known to significantly increase the risk of colorectal cancer when both copies are mutated. However, this study investigated whether having a single mutated copy of MUTYH influences the risk of acquiring cancer.
Lead author Channing Paller, M.D., and her team analyzed data from over 350,000 patient biopsy samples, making it the largest study to date on this subject. They found that individuals with one working copy and one mutated copy of MUTYH exhibited a genetic signature indicating additional mutations and a defective base excision repair (BER) pathway, which is responsible for repairing DNA damage in human cells. This group showed a modest increase in susceptibility to certain solid tumors, including adrenal gland cancers and pancreatic islet cell tumors.
Importantly, this research clarified that individuals with a single, mutated copy of MUTYH did not have an increased risk for breast or prostate cancer, which was a question raised by one of Paller’s patients with aggressive prostate cancer.
These findings suggest that MUTYH variants may be involved in a broader range of cancers than previously understood. Paller emphasized the potential therapeutic implications of these findings, raising the question of whether targeting the BER pathway could lead to new treatment strategies for solid cancers. By understanding the genetic mechanisms underlying these tumors, researchers may be able to develop targeted therapies that exploit vulnerabilities in cancer cells’ repair pathways.
Overall, this study underscores the importance of genetic research in elucidating the complexities of cancer development and identifying potential targets for therapeutic intervention. Further research into the BER pathway and its role in cancer biology could pave the way for innovative treatment approaches to combat a variety of solid tumors.