APC: Options for Managing Cancer Risk
Risk 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. It's important to seek care from healthcare providers with expertise in managing risk in people with FAP.
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 |
Scoping of remaining tissue depending on type of surgery (type of scoping and frequency depends on type of surgery and amount of tissue remaining):
|
After colectomy |
Have a conversation with your doctor about the potential benefits and limitations of sulindac to decrease polyp formation. Note: sulindac is not FDA-approved for this use. |
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, Endometrial, and Gastric vs. 1 2024 |
|
Participate in Prevention Research
Clinicaltrials.gov identifier:
NCT05552755
Prevention
Prevention study for people with an APC mutation and FAP who have had colectomy surgery
This study is looking at how safe and effective the research drug REC-4881 is for treating polyps in people with Familial Adenomatous Polyposis (FAP). Participants will receive the oral drug REC-4881. A participant's dose will...
Testing the Drug Obeticholic Acid for Familial Adenomatous Polyposis
Clinicaltrials.gov identifier:
NCT05223036
Prevention
Prevention study for people with an APC mutation and FAP or AFAP who have polyps in remaining tissue after colectomy surgery
This study is looking at whether obeticholic acid (OCA) is safe and has a beneficial effect on the number of polyps in the small bowel and colon in people with familial adenomatous polyposis (FAP). OCA...
A Study of the Drug REC-4881 For Treating People with Advanced Cancers with an APC or AXIN1 Mutation
Clinicaltrials.gov identifier:
NCT06005974
Treatment
Treatment study for people with advanced cancer with an APC or AXIN1 mutation
This study is looking at how well the research drug REC-4881 works and how safe it is for the treatment of people with advanced or metastatic cancers with an APC or AXIN1 mutation.
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. |