Stay up to date on research and information
Sign Up for FORCE NewslettersRisk Management for People with an Inherited APC Mutation
Familial adenomatous polyposis (FAP) and atypical FAP (AFAP)
Expert guidelines on risk-management for people with FAP and AFAP are listed below. Ask your doctor to explain the signs of cancers related to FAP and report any symptoms to your doctor.
Researchers are looking at new ways to prevent or intercept cancer in people with FAP or AFAP. Speak with your doctor to learn if you are eligible for a clinical trial and to decide if it's the best option for you.
Importantly, people with a specific APC mutation known as APC variant I1307K do not develop FAP. The guidelines in the large table do not apply to people with this variant. See the bottom section of this page for the specific guidelines for people with APC variant I1307K.
Beginning Age |
Recommendation |
Infants |
Physical exam to screen for liver tumors; abdominal ultrasound 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 ultrasound 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 polyps 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 polyps found), typically with a specialized scope that can evaluate the ampullar of Vater. |
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 polyps in the lower small intestine (the jejunum and the ileum). |
No specified age |
Routine CT or MRI 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. |
Source: NCCN Guidelines: Genetic/Familial High-Risk Assessment: Colorectal, vs. 2 2023 |
|
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. |
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.
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).