Familial Adenomatous Polyposis

By: Luke Pardy

Chromosome with FAP

• This disorder is located on the long arm part of chromosome number 5

Name of gene and protein coded for by gene

• The name of this gene is the APC gene or Adenomatous Polyposis Coli.

• The protein coded for by this gene helps with cell adhesion and signal transduction.

• The mutation will cause the protein to be shorter and will not be able to function.

Symptoms of FAP

• Symptoms usually include about 100 or more polyps on the colon, rectum, upper gastrointestinal tract, ocular, skeletal, and cutaneous which will often become cancerous but usually not until the individuals 40’s

• Tumors can also occur from this, noncancerous , but can constrict blood vessels if too big.

Inheritance of FAP

• This gene is autosomal dominant which means an individual will have a 50% chance of passing it on to their child.

• No family history has to be present for it to occur and even if a person does not have both genes for it, they will still show symptoms.

Treatment and Medications for FAP

• There is no treatment for this since the genetic abnormality can’t be changed management includes regular checkups for at-risk or affected individuals for early detection and treatment of polyps.

• One possible treatment is to actually remove the rectum and colon.

• Relatives to a patient should get regular screening for the disease.

• There are many more possible treatments for this disease, these are only a few major ones.

Impact on normal life and Research outlook

• This disease for an individuals mental well being can be bad. Studies have shown that individuals with a serious case of this disease had anxiety, low self esteem, and were all around depressed. Most patients with a normal case of this are depressed in general due to this disease.

• APC genetic testing is being considered due to its ability to eliminate regular screening and be more accurate.

Suggested websites

• http://schrollgen677s10.weebly.com/

• http://www.cancer.gov/cancertopics/pdq/genetics/colorectal/HealthProfessional/page5

Works Cited• http://schrollgen677s10.weebly.com/uploads/

3/6/0/1/3601900/3857812.jpg?382• "Familial Adenomatous Polyposis." The Gale Encyclopedia of

Genetic Disorders. Ed. Laurie Fundukian. Vol. 1. Detroit: Gale, 2010. 551-554. Gale Virtual Reference Library. Web. 18 Apr. 2011.

• "Genetics of Colorectal Cancer (PDQ®) - National Cancer Institute." Comprehensive Cancer Information -

National Cancer Institute. 24 Feb. 2011. Web. 18 Apr. 2011.• "familial adenomatous polyposis." Mosby's Medical, Nursing, &

Allied Health Dictionary. 5th ed. Mosby, 1998. Health Reference Center Academic. Web. 18 Apr. 2011