In 1997, a Johns Hopkins research team found an inherited genetic mutation called APC I1307K. Adenomatous polyposis coli (APC) is a gene that suppresses tumor growth. If the APC gene is defective, it makes the gene unstable and more susceptible to additional changes that may lead to colon and rectal cancers.

The APC I1307K mutation is primarily found in people of Ashkenazi Jewish heritage (Jews of Eastern European or Russian ancestry). Researchers believe that 6 percent of Ashkenazi Jews carry this gene mutation, and that people with this mutation have twice the lifetime risk of colorectal cancer compared to those who do not.

Colorectal Cancer Symptoms

Many patients with colon cancer and rectal cancer experience no symptoms in the early stages. In fact, symptoms may not appear until the disease has progressed to an advanced stage. Routine colon and rectal cancer screening is very important.

Many symptoms of colon and rectal cancers are also symptoms of other colon diseases. Therefore, it is important to see an experienced gastroenterologist who can perform the necessary tests and make an accurate diagnosis.

Symptoms may include the following:

• Blood in the stool
• Unexplained diarrhea
• A long period of constipation
• Abdominal cramps
• A decrease in the size of the stool
• Feeling of distension of abdomen (gas pain, bloating, fullness and cramping)
• Unexplained weight loss
• Vomiting and lethargy

APC I1307K Diagnosis

If you have a family history of colorectal cancer, your doctor may recommend a genetic test to look for this gene mutation.

Learn more about diagnosing APC I1307K:

Genetic Testing

Genetic testing involves a simple blood or saliva test. The test for APC I1307K would scan for any troublesome mutations in the APC gene, most of which impart a much higher risk of colon cancer

Before having a genetic test, you should undergo genetic counseling. This appointment will help you consider the many issues involved in genetic testing and understand how testing will affect you.

Testing for the APC I1307K Mutation: Are You a Candidate?

You should consider genetic testing if you have a family history of colon and rectal cancers or polyps. Family history is defined as having at least one close family member with cancer or polyps.

Positive Test Result for APC I1307K

If your test is positive for the genetic mutation, experts recommend the following:

• If you do not already have colon cancer or polyps: You should have a routine colonoscopy every five years, beginning at age 40, or five to 10 years before the earliest age at which cancer or polyps occurred in your family.
• If you have a personal history of colon cancer or polyps: You should have a routine colonoscopy as often as your doctor recommends.
• If you are a relative of someone who tested positive for the gene mutation: You should also consider counseling and testing.

It is important to detect polyps or cancer early. Treatment is more successful when cancer is caught at an early stage.

Family History and Physical Examination

Our team will keep a detailed record of your medical history, which includes your personal and family history.

APC I1307K management

Screening for people with APC I1307K should be done with colonoscopy.

A colonoscopy is the best way to detect polyps or cancer, as it reaches further into the bowel than a sigmoidoscopy. Your colon must be clear of stool so that your doctor has good visibility. Preparations may include a liquid diet and laxatives. You are sedated before the procedure.

During a colonoscopy:

• Your doctor inserts the colonoscope through the rectum and into the anus and large intestine to check for cancer and polyps.
• Biopsy forceps may be inserted through the scope to remove a small sample of tissue for further analysis.
• If a polyp is found, it can be removed through the colonoscope.
• You may experience some cramping or discomfort.

Treatment for colon and rectal cancer related to APC I1307K depends on the results of the diagnosis. If your doctor found cancer during the examination, he or she will recommend colorectal surgery. Factors to consider when choosing your specific surgical plan include the following:

• Your cancer stage
• Your age, health and desires
• The potential changes in your bowel function
• Your risk of further cancer formation

Before making any decisions regarding treatment, you should seek genetic counseling as well as a colorectal surgical consultation.