Adenomatous polyposis coli gene (APC gene) is a specific gene that plays a crucial role in regulating cell division in the human body. It is named after its association with a hereditary condition called familial adenomatous polyposis (FAP) that causes the development of numerous adenomatous polyps in the colon and rectum.
The APC gene is located on chromosome 5 and encodes a protein called Adenomatous Polyposis Coli (APC). This protein acts as a tumor suppressor, meaning that it helps to control cell growth and prevent the formation of abnormal growths or tumors.
Mutations in the APC gene can disrupt the normal function of the protein, leading to uncontrolled cell division and the formation of polyps. These polyps, if left untreated, have the potential to become cancerous over time, particularly colorectal cancer.
Individuals inheriting a defective APC gene have an increased risk of developing FAP, a condition characterized by the presence of hundreds to thousands of polyps. These polyps can start developing in early adolescence and may eventually progress into colon cancer if not treated or surgically removed.
The APC gene is also associated with sporadic colorectal cancer, where mutations in the gene occur during an individual's lifetime rather than being inherited. In sporadic cases, the mutations in the APC gene are thought to be acquired due to various environmental factors or other genetic mutations.
Understanding the role and function of the adenomatous polyposis coli gene is crucial for genetic counseling, disease prevention, and the future development of potential treatments and targeted therapies for conditions linked to APC gene mutations.
