Familial adenomatous polyposis

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Other Names: Adenomatous polyposis coli, Adenomatous polyposis of the colon, FAP, FPC, Familial adenomatous polyposis of the colon, Familial intestinal polyposis, Familial multiple polyposis, Familial polyposis coli, Familial polyposis of the colon, Hereditary polyposis coli, Polyposis, adenomatous intestinal See more

Categories: Hereditary Cancer Syndromes, Rare Cancers

Subtypes

Gardner syndrome

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Description

Familial adenomatous polyposis (FAP) is an inherited condition that causes cancer of the large intestine (colon) and rectum. People with the classic type of FAP usually develop hundreds to thousands of noncancerous (benign) polyps (growths) in the colon as early as their teenage years. Overtime, these polyps can become malignant (cancerous), leading to early-onset colorectal cancer at an average age of 39 years. Other signs and symptoms may include dental abnormalities; desmoid tumors; and benign and malignant tumors of the duodenum (a section of the small intestine), stomach, bones, skin, and other tissues. Some people have a milder form of the condition called attenuated familial adenomatous polyposis (AFAP) which is generally characterized by fewer colon polyps (an average of 30) and a delay in the development of colon cancer by 10-15 years. FAP is caused by changes (mutations) in the APC gene and is inherited in an autosomal dominant manner. People with FAP usually undergo regular screening until they develop 20 to 30 polyps and then a colectomy (removal of colon) is generally recommended.

Source: GARD Last updated on 05-01-20

Symptoms

What are the signs and symptoms of familial adenomatous polyposis?

The signs and symptoms of familial adenomatous polyposis (FAP) vary both within families and between families. Classic FAP is characterized primarily by hundreds to thousands of noncancerous (benign) polyps (growths) in the colon that begin to appear at an average age of 16 years. Unless the colon is removed, these polyps will become malignant (cancerous), leading to early- onset colorectal cancer at an average age of 39 years.

Other features of FAP may include:

Fundic gland or adenomatous polyps of the stomach
Adenomatous polyps of the small intestines
Osteomas (benign bone tumors)
Dental abnormalities
Congenital hypertrophy of the retinal pigment epithelium (a flat, pigmented spot within the outer layer of the retina)
Benign skin abnormalities
Adrenal masses
Desmoid tumors
Other types of cancer (small bowel, stomach, pancreas, thyroid, central nervous system, liver, bile ducts, and/or adrenal gland)

Last updated on 05-01-20

Symptoms and their Known Frequencies

We're currently performing maintenance on our symptoms information from GARD. Please check back at a later time for updates.

Is genetic testing available for familial adenomatous polyposis?

Genetic testing is available for the gene known to cause familial adenomatous polyposis (FAP). Prenatal testing and genetic testing for at-risk relatives are possible if the disease-causing mutation in the family is known. Because colon screening for those at risk for classic FAP begins as early as age ten years, genetic testing is generally offered to children by this age. Testing may be offered earlier if the child is showing signs or symptoms of FAP.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Last updated on 05-01-20

Name: American Cancer Society 250 Williams Street NW
Atlanta, GA, 30329, United States Toll Free: 1-800-227-2345 Url: https://www.cancer.org

Name: Fight Colorectal Cancer 134 West Park Central Square Suite 210
Springfield, MO, 65806, United States Phone: +1-703-548-1225 (Office) Toll Free: 1-877-427-1211 (Helpline) Email: Info@FightCRC.org Url: https://fightcolorectalcancer.org/

Name: Colon Cancer Alliance 1025 Vermont Ave, NW Suite 1066
Washington, DC, 20005, United States Phone: +1-202-628-0123 (Office) Toll Free: (877) 422-2030 (Helpline) Url: https://www.ccalliance.org/

Name: Cancer Hope Network 2 North Road, Suite A
Chester, NJ, 07930, United States Phone: +1-908-879-4039 Toll Free: 1-877-467-3638 (1-877-HOPENET) Fax : +1-908-879-6518 Email: info@cancerhopenetwork.org/ Url: https://www.cancerhopenetwork.org/

Name: AMC Cancer Research Center 3401 Quebec St, Suite 3200
Denver, CO, 80207, United States Phone: 303-233-6501 Toll Free: 800-321-1557 Fax : 303-239-3400 Email: contactus@amc.org Url: http://www.amc.org/

Name: IMPACC (Intestinal Multiple Polyposis and Colorectal Cancer) P.O. Box 11
Conyngham, PA, 18219 , United States Phone: 570-788-3712 Fax : 717-788-1818

Name: The J-Pouch Group Url: http://www.jpouch.org/

Name: Hereditary Colon Cancer Foundation 3519 NE 15th Avenue Unit 518
Portland, OR, 97212, United States Phone: +1-334-740-8657 Email: info@HCCTakesGuts.org Url: https://www.hcctakesguts.org/

Name: FAP Gene Support Group 12 Freeby Close Melton Mowbray
Leicestershire , LE13 1HN, United Kingdom Phone: 01664-566101 Email: enquiries@fapgene.com Url: http://www.fapgene.com/

Jasperson KW, Burt RW. APC-Associated Polyposis Conditions GeneReviews. March 27, 2014; Reference Link National Comprehensive Cancer Network. Genetic/Familial High-Risk Assessment: Colorectal NCCN Clinical Practice Guidelines in Oncology. 2014; Reference Link

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Familial adenomatous polyposis

Table of Contents

Description

Symptoms

What are the signs and symptoms of familial adenomatous polyposis?

Symptoms and their Known Frequencies

Is genetic testing available for familial adenomatous polyposis?

Connect with other users with Familial adenomatous polyposis on the RareGuru app

Join the RareGuru Community

Familial adenomatous polyposis

Table of Contents

Description

Symptoms

What are the signs and symptoms of familial adenomatous polyposis?

Symptoms and their Known Frequencies

Diagnosis

Is genetic testing available for familial adenomatous polyposis?

Organizations

References

Connect with other users with Familial adenomatous polyposis on the RareGuru app

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