In Gardner's syndrome, which gene mutation is primarily involved?

In Gardner's syndrome, the gene primarily involved is the APC gene. Gardner's syndrome is a genetic disorder that is considered a subtype of familial adenomatous polyposis (FAP). The APC gene, located on chromosome 5, is a tumor suppressor gene that plays a crucial role in regulating cell growth and preventing tumor formation. When mutations occur in the APC gene, it can lead to the development of multiple adenomatous polyps in the colon, as well as extraintestinal manifestations such as desmoid tumors, osteomas, and soft tissue tumors.

The significance of this gene in Gardner's syndrome lies in its function: individuals with mutations in the APC gene lack the ability to effectively regulate cell proliferation, leading to a higher risk of colorectal cancer. Regular surveillance and proactive management are critical for patients with Gardner's syndrome due to this increased cancer risk.

Understanding the role of the APC gene in this condition helps medical professionals identify individuals at risk and implement early intervention strategies that can significantly impact their health outcomes.