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Hereditary Cancer and Genetic Testing

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 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 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 polyps 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. 

 

clinical-trials 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 multi-institutional resource created to enable the design of 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.
  • NCT04230499: Trial of eRapa to Prevent Progression in Familial Adenomatous Polyposis Patients Under Active Surveillance. Patients with Familial Adenomatous Polyposis (FAP) who are undergoing endoscopic surveillance will be given Encapsulated Rapamycin (eRapa) at one of three escalating doses/schedules for 12 months with the aim of reducing polyp burden. The trial will enroll 30 patients with the genetic or clinical diagnosis of FAP. The clinical diagnosis includes individuals with 100 or more cumulative tubular adenomas throughout the colorectum. Patients must be undergoing surveillance for known FAP and can include those with intact colons as well as those who have undergone surgical therapy. 
  • NCT05014360: A Study of JNJ-64251330 in Participants With Familial Adenomatous Polyposis. The purpose of this study is to determine the effect of JNJ-64251330 in participants with Familial Adenomatous Polyposis (FAP) on colorectal polyp burden (sum of the polyp diameters).

updated: 02/08/2022

Last updated July 03, 2022