Amber Ellis and Russell Brown Colon Cancer Amber Ellis and Russell Brown

Roger Kettering is a 23 year old graduate student with a history of FAP (a mutation in the APA gene leading to colon cancer) His mother and aunt have both been diagnosed

What Is FAP? FAP occurs when a person is born with a mutation in a specific gene called the APC gene. People born with FAP are at nearly 100 percent risk of developing colon cancer if they do not undergo surgery

FAP Gene Lowers Age of Onset Colon Cancer: Average Age of Onset FAP is inherited in an autosomal dominant fashion

How Does FAP Cause Colon Cancer? individuals with FAP begin developing polyps teenage years. They will have hundreds by their 50’s Normal individuals with colon cancer have around 10 polyps

Roger has been considering genetic testing

FAP Testing most widely available FAP genetic test is protein truncation testing, or PTT when the APC gene is mutated, it produces a protein that is shorter than those of the normal gene look for evidence that APC gene proteins are truncated, or shorter.

Drawbacks of APC Testing APC gene testing may not be reliable Not all APC gene alterations that cause FAP will be detected Positive PTT gene test results are found in eighty percent of FAP families tested Only when a member of your family has been clinically diagnosed with FAP and also has a positive PTT test is can you be certain of the presence of this gene May also use sequencing to supplement

Concerns 1. Patient should be having regular colon screenings, once per year. 2. Patient may go on to have surgery to remove their colon to prevent cancer if it is found to have multiple polyps upon the primary exam. 3. Prior surgeries to remove the colon would leave an external ileostomy. Now surgeons can create an internal pouch to serve as a storage reservoirfor waste -sort of the way the colon does.

Information Needed 1. As with all genetic testing, the results of the test cannot be dealt with strictly on the basis of the scientific result. The psychological and emotional aspects must be considered for this individual. 2. This test has ramifications for all family members. This needs to be considered both prior to and after the test.

Roger decided that despite the drawbacks he was going to be tested Roger decided that despite the drawbacks he was going to be tested. The test was a simple blood test, and in three weeks, Roger had the news. He was relieved to learn that he did not inherit the change in the gene that caused FAP in the Lahey family

What would make this counseling session easier? 1. Since colon cancer, even hereditary colon CA, has a very good prognosis if caught early, testing for those individuals who have a family history makes sense. 2. There are solid actions that a patient can take after the test to prevent the cancer. Eat vegetables, fiber, and lots of calcium Non-steroidal anti-inflammatory drugs Lots of Physical Activity