What is the APC Gene?
The APC gene is responsible for regulating the production of a specific protein that plays a crucial role in controlling the activity of beta-catenin. Beta-catenin is involved in the differentiation and proliferation process of cells. The protein produced by the APC gene binds to beta-catenin, indicating the completion of the process and signaling the breakdown of beta-catenin.
However, when there is a mutation in the APC gene, it leads to the production of shortened proteins that are unable to bind with beta-catenin effectively. As a result, beta-catenin does not break down as it should, leading to uncontrolled cell growth and proliferation.
Diagnosis
When a person does not have a history of familial adenomatous polyposis (FAP) or bowel growths and polyps, doctors and other healthcare providers may not immediately suspect a desmoid tumor. The initial step in diagnosing a desmoid tumor involves obtaining a thorough medical history and gathering information about reported symptoms. If the tumor is large enough or located near the surface, it may be palpable. Medical imaging tests such as CT or MRI scans are commonly used to provide a visual representation of the tumor. To confirm the diagnosis, doctors may choose to remove the tumor and perform a biopsy for further laboratory analysis.