What does it mean to test positive for APC gene mutation?
APC mutation. Your testing shows that you have a pathogenic mutation or a variant that is likely pathogenic in the APC gene. 2. FAP or AFAP. People with mutations in the APC gene have familial adenomatous polyposis (FAP) or attenuated FAP (AFAP).
How common is APC mutation?
APC gene mutations are found in about 10 to 15 percent of non-inherited (sporadic) desmoid tumors; these mutations are somatic, which means they are acquired during a person’s lifetime and are present only in tumor cells.
What is the APC mutation?
Mutations in the APC gene may result in colorectal cancer. APC is classified as a tumor suppressor gene. Tumor suppressor genes prevent the uncontrolled growth of cells that may result in cancerous tumors….Adenomatous polyposis coli.
| APC | ||
|---|---|---|
| Species | Human | Mouse |
| Entrez | 324 | 11789 |
| Ensembl | ENSG00000134982 | ENSMUSG00000005871 |
| UniProt | P25054 | Q61315 |
What is APC in colon cancer?
Adenomatous polyposis coli (APC) is a gene that suppresses tumor growth. If the APC gene is defective, it makes the gene unstable and more susceptible to additional changes that may lead to colon and rectal cancers.
What causes APC gene mutation?
FAP is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Somatic mutations in the APC gene are an early event in colorectal tumorigenesis, and can be detected in the majority of colorectal tumours.
How does APC cause colon cancer?
The APC gene is a tumor suppressor gene; it normally helps keep cell growth in check. In people with inherited changes in the APC gene, this “brake” on cell growth is turned off, causing hundreds of polyps to form in the colon. Over time, cancer will nearly always develop in one or more of these polyps.
How many exons are in APC gene?
Another inheritable form of polyposis is caused by recessive mutations of the MUTYH gene. MUTYH-associated polyposis (MAP) is found in 10–20% of polyposis patients. The APC gene is a relatively large gene, containing 15 exons and encoding a protein of 2843 amino acids.
