Risk management for people with an inherited APC mutation

Familial adenomatous polyposis (FAP) and atypical FAP (AFAP)

Experts guidelines on risk-management for people with FAP and AFAP are listed below. Importantly, these risks and interventions do not apply to people who have the specific APC variant I1307K. See below for the specific risk-management options for people with that variant.


Beginning age	Recommendation
Infants	Physical exam to screen for liver tumors; abdominal and AFP (alpha-fetoprotein) blood levels every 3-6 months until age 5.
10-15 (people with AFAP may start screening at age 18)	Annual high-quality colonoscopy.
Late teenage years	Thyroid every 2-5 years, with referral to thyroid expert if findings are abnormal (or more frequently, based on family history of thyroid cancer).
No specified age (depends on personal history of and individual preferences)	Risk-reducing colectomy; speak with health care experts about benefits and risks of each colectomy surgical option. See our section on colectomy for descriptions of the different types of procedures.
After colectomy	Sigmoidoscopy (frequency depends on type of surgery and amount of tissue remaining) or pouchoscopy.
20-25 (or earlier, based on family history)	Upper endoscopy of the stomach and small intestine (frequency depends on number, size, and type of found), typically with a specialized scope that can evaluate the ampullar of Vater.
No specified age	Additional screening of the pancreatic may be considered on a case by case basis, particularly if there is a significant family history of pancreatic cancer. This may include endoscopic (EUS) and endoscopic retrograde cholangiopancreatography.
No specified age	Consider capsule endoscopy (this involves swallowing a pill-sized camera that takes photos of your intestines as it travels through your digestive tract) or an endoscopic evaluation of the lower small intestine (called an enteroscopy) may be considered on a case by case basis for individuals felt to have a particular risk of in the lower small intestine (the jejunum and the ileum).
No specified age	Routine CT or imaging to evaluate for desmoid tumors is not recommended, but worrisome abdominal symptoms (e.g., unexplained pain) should prompt abdominal imaging. Individuals with known abdominal desmoid tumors may warrant regular surveillance imaging.
No specified age	Learn the signs and symptoms of other FAP-related tumors, including central nervous system cancers and desmoid tumors.
No specified age	Speak with your doctor about the benefits and risks of medications and the availability of clinical trials for managing risk of colorectal cancer.

APC variant I1307K

People with the I1307K variant in the APC gene are recommended to begin colorectal cancer screening at age 40 (or younger depending on family history of cancer). Recommendations include a high-quality colonoscopy every 5 years.

Last updated July 03, 2022

Related Resources

The following resources focus on FAP, AFAP and MAP:

FORCE blog: Hereditary Colorectal Cancer: My AFAP Story
Genetics Home Reference is a site from the U.S. Library of Medicine that provides consumer-friendly information about the effects of inherited mutations in APC and MUTYH on people's health.
Colorectal Cancer Alliance is a nonprofit organization with a focus on colorectal cancer treatment, detection and prevention.
FORCE offers many peer support programs for people with inherited mutations.
- Our Message Boards allow people to connect with others who share their situation. Once you register, you can post on the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Our moderated, private Facebook group allows you to connect with other community members 24/7.

updated: 02/08/2022

Open Clinical Trials

The following are studies that may be of interest to people with FAP or AFAP:

NCT02012699: Integrated Cancer Repository for Cancer Research. The iCaRe2 is a study to find new strategies for prevention, screening, early detection and personalized treatment of cancer. Centers with expertise in cancer epidemiology, genetics, biology, early detection, and patient care can collaborate by using the iCaRe2 as a platform for cohort and population studies.
NCT05223036: Testing Obeticholic Acid to Reduce in People Familial Adenomatous Polyposis. This study looks at whether giving obeticholic acid (OCA) is safe and decreases the number of in the small bowel and colon in patients with familial adenomatous polyposis (FAP).
NCT05552755: Efficacy and Safety of REC-4881 in Participants With Familial Adenomatous Polyposis (FAP) (TUPELO). This trial will evaluate efficacy, safety, pharmacokinetics, and pharmacodynamics of REC-4881 in participants with Familial Adenomatous Polyposis (FAP).

updated: 05/29/2023