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Mutations in the APC Gene

Learn about the cancer risks, screening, prevention and treatment options for people with inherited APC mutations. Stay up to date by signing up for our community newsletter.
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Information for People with Inherited APC Gene Mutations

What is the APC gene?

APC is a type of gene known as a tumor suppressor gene. When the gene works properly, it can keep cancer from developing.

What happens to people with a mutation in their APC gene? 

People with a mutation in the APC gene have an increased risk for cancer, particularly, colorectal cancer. The lifetime cancer risks and risk management recommendations depend on several factors, including the location and type of APC mutation. APC mutations and their related cancer risks are typically divided into 3 categories:

  • Familial adenomatous polyposis (FAP)
  • Attenuated FAP
  • APC variant I1307K

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

FAP and AFAP are caused by mutations in the APC gene. These conditions are rare, occurring in about one in 10,000 people. People with FAP may develop hundreds to thousands of in their colon and rectum, often beginning in their teenage years or early adulthood. Attenuated FAP is a milder subset of FAP that tends to begin at a later age than FAP. People with AFAP may develop dozens rather than hundreds or thousands of colon and rectal .

APC variant I1307K

A variant in the APC gene, known as I1307K (or sometimes called c.3920T>A or p.Ile1307Lys) is common in people of Eastern European Jewish ethnicity; about 7 percent will have this variant. People who test positive for I1307K do not develop FAP. They do have a slightly increased risk for colorectal cancer beginning in adulthood and risk management recommendations include more frequent screenings beginning at a slightly younger age than people in the general population.

What can people with an APC mutation do?

Risk management recommendations for people with FAP and AFAP begin at a young age and continue throughout their life. It's important that people seek care from healthcare providers with expertise in managing risk in people with FAP. 

There may be other medical concerns for people with a APC mutation, including cancer risks for children beginning at a young age.

Each of these topics is outlined in more detail in the sections highlighted below. 

Community Stories

January 25, 2021

Hereditary Colorectal Cancer: My AFAP Story

by Dan Dry Dock Shockley I am 60 years old, retired from the Navy (a veteran of Operation Desert Storm, Enduring Freedom and Iraqi Freedom) and a 9-year hereditary colon cancer warrior. In May 2012, at the age of 51, my first colonoscopy revealed 100...

More Information on APC Mutations

Cancer Risks

Cancer risk estimates are updated based on the latest research. Read about the lifetime risk for different cancers in people with inherited APC mutations. 

More info

Risk Management Options

Read about the latest expert guidelines for cancer screening and prevention for people with an APC mutation. Learn about research studies enrolling high-risk patients.   

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Cancer Treatment Options

People with an APC mutation who have been diagnosed with cancer may qualify for specific treatments or clinical trials. 

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Other Considerations

Risk management recommendations with FAP and AFAP begin at a young age. Learn about other important considerations for people with inherited APC mutations. 

More info

Participate in Research

The studies below are enrolling people with APC mutations and FAP or AFAP. To search for more studies, visit our Search and Enroll Tool

Testing the Safety And Action of the Investigational Drug REC-4881 in People With Familial Adenomatous Polyposis (FAP)

Testing the Safety And Action of the Investigational Drug REC-4881 in People With Familial Adenomatous Polyposis (FAP)

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

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

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.


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Last updated February 25, 2024