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What happens if the apc gene is mutated?
If the APC (Adenomatous Polyposis Coli) gene is mutated, it can lead to the development of familial adenomatous polyposis (FAP), a hereditary condition characterized by the formation of numerous polyps in the colon and rectum. These polyps have a high potential to become cancerous if left untreated, significantly increasing the risk of colorectal cancer. Additionally, APC mutations can disrupt normal cell signaling pathways, contributing to tumorigenesis in various tissues. Overall, APC gene mutations have profound implications for cancer risk and tumor development.
Is FAP a sex linked genetic disease and why?
Yes, familial adenomatous polyposis (FAP) is a genetic disease caused by mutations in the APC gene, which is located on chromosome 5. While the APC gene is not located on the sex chromosomes (X or Y), FAP can be inherited in an autosomal dominant pattern, meaning that both males and females are equally likely to inherit the disease.
What can be determined from looking at a pedigree?
patterns of familial inheritance. patterns of sex-linked inheritance.
Why do people get Adenomatous Polyposis Coli?
APC is usually associated with inheritance of a faulty gene from a parent. The APC gene is required to stop cells growing too fast: knocking out the other copy of the gene in the body (by chemical damage or random DNA damage) removes this 'brake' and allows lots of little polyps to form in the intestine.
Does FAP follow a recessive or dominant inheritance pattern and why?
FAP follows both an autosomal recessive and autosomal dominant pattern depending on which gene you inherit the disease from. If inherited through the APC gene, which is most common, it is autosomal gdthe disease. If inherited through the MUTYH gene it is autosomal recessive, meaning that both parents were carriers of the disease or they both were living with the disease.
Is Familial polyposis cancerous?
Hello, I see you are asking "Is Familial polyposis cancerous" Familial adenomatous polyposis (FAP) is an inherited disorder characterized by cancer of the large intestine (colon ) and rectum. People with the classic type of familial adenomatous polyposis may begin to develop multiple noncancerous (benign) growths (polyps ) in the colon as early as their teenage years. To get more info visit the url: orthopedicshealth. com/symptoms/directory/a
Who are the patients who receive ileoanal anastomosis?
Most patients--more than 85%--who undergo an ileoanal anastomosis are being treated for ulcerative colitis; familial adenomatous polyposis is the next most common condition requiring the surgery.
What is Familial polyposis?
A disease that runs in families in which lumps of tissue (polyps) form inside the colon
Is there a cancer susceptibility gene found for colon cancer?
Yes, there are several forms of familial colon cancer. Several mutations are associated with multiple colon polyps that can be diagnosed with a colonoscopy. This trait is called "Familial adenomatous polyposis". Other mutations are not associated with polyps; the trait is called "hereditary non-polyposis colorectal cancer".
What leads to permanent ileostomy?
The most common disorders requiring permanent ileostomy are Crohn's disease, familial polyposis, and ulcerative colitis
What prevention methods are there to avoid familial polyposis?
FAP cannot be prevented. Aggressive diagnosis, treatment, and follow-up monitoring are keys to successful management of the disease.
What are the population statistics for familial polyposis?
FAP is a rare disease. One in 8,000 people in the United States have FAP. However, it may be very common in affected families.
What are the causes of intestinal polyps?
There are several hereditary diseases that produce large numbers of intestinal polyps. These disorders include: Familial polyposis of the colon. Gardner's syndrome. Lynch's syndrome.
What is the prognosis for a patient with familial polyposis?
It has been estimated that a patient with known FAP has a relative risk of dying over three times greater than that of the average population, at a given age.
How is familial polyposis diagnosed?
The abnormal portion of the gene that causes FAP in most patients can be detected. A blood test can then be performed which identifies family members who have the same mutation. They will eventually develop the condition.
What treatment exists for patients with familial polyposis?
The only definitive treatment for FAP is surgical removal of the lower intestine. Since the goal is to prevent cancer, the operation is done as soon as adenomatous polyps are found on sigmoidoscopy.
What are the causes of familial polyposis?
FAP is caused by a portion of a gene that mutates or changes. The original cause of the mutation is unknown. Its exact role in FAP is not completely clear. Researchers theorize that the normal gene directs the manufacture of.
