Table of Contents
What type of mutation is APC?
Familial adenomatous polyposis The most common mutation in FAP is a deletion of five building blocks of DNA (nucleotides) in the APC gene. This mutation changes the sequence of the building blocks of proteins (amino acids) in the resulting APC protein.
Is APC gene recessive?
When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.
What does APC gene stand for?
APC is a relatively large gene on chromosome 5 in region 5q21-q22. Although a number of different mutations have been identified in the APC gene, most (about 80\%) of them cluster in one area of the gene, interrupt its transcription, and truncate (cut off) the transcript. APC stands for adenomatous polyposis coli.
Is APC a transcription factor?
APC participates in a cytoplasmic complex that promotes the destruction of the transcriptional licensing factor β-catenin; APC mutations that abolish this function trigger constitutive activation of the canonical WNT signaling pathway, a characteristic found in almost all colorectal cancers.
What is PTEN gene mutation?
Acquired (also known as somatic) PTEN genetic mutations are one of the commonly found mutations in human cancer. These mutations have been found in many different types of cancer, including prostate cancer, uterine cancer, and some types of brain tumors.
What is VHL gene?
A gene that makes a protein that helps control cell growth, cell division, and other important cell functions. Mutated (changed) forms of the VHL gene may increase the growth of cells, including abnormal cells. This mutated gene has been found in nearly all patients with an inherited condition called VHL syndrome.
What happens when APC gene is mutated?
People with mutations in the APC gene have familial adenomatous polyposis (FAP) or attenuated FAP (AFAP). You have an increased chance to develop multiple gastrointestinal polyps, colorectal cancer, and possibly other cancers. There are risk management options to detect cancer early or lower the risk to develop cancer.
What type of protein is APC?
The adenomatous polyposis coli (APC) protein is a component of the Wnt/β-catenin signaling pathway that negatively regulates cell growth. APC complexes with glycogen synthase kinase-3 (GSK3) and axin. This complex is responsible for targeting free cytosolic β-catenin for ubiquitin-mediated degradation.
What is APC in cell division?
A type of immune cell that boosts immune responses by showing antigens on its surface to other cells of the immune system. An APC is a type of phagocyte. Also called antigen-presenting cell.
What is p10 gene?
The PTEN gene helps stop the growth of tumors. It’s known as a tumor suppressor. A tumor suppressor gene is like the brakes on a car. It puts the “brakes” on cells, so they don’t divide too quickly. If you have a PTEN genetic mutation, it can cause the growth of noncancerous tumors called hamartomas.
Is VHL a tumor suppressor?
The VHL protein likely plays a role in other cellular functions, including the regulation of other genes and control of cell division. Based on this function, the VHL protein is classified as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way.
What happens if the APC gene is mutated?
In some types of colon cancer, stem cells have a mutation in the APC gene. What happens if the APC gene is mutated? The stem cells have trouble making it through the final stage of differentiation = they start to pile up = they form a tumor.
What is the full meaning of APC?
The definition of apc is an abbreviation for an armored personnel carrier which is a vehicle the military uses to move troops.
What does genes, APC mean?
APC (gene): A major gene that is involved in causing colorectal cancer. APC is involved in both sporadic and familial forms of colorectal cancer. A mutation in the APC gene is the earliest detectable molecular abnormality in colorectal cancer. This mutation imitates the neoplastic process 20 to 30 years before the malignancy itself is full-blown.