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Genetic Disorders

Genetic Disorders

December 29, 2021
Ray Scott Daugherty, MD
Ray Scott Daugherty, MD

Colon and Rectal Surgery

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There are a few genetic disorders that we really pay attention to in our field, including familial adenomatous polyposis or Lynch syndrome. With regards to familial adenomatous polyposis, this is where a patient will actually have hundreds to thousands of polyps throughout their colon and rectum. These patients we really want to diagnose at an early age as they actually have almost a hundred percent chance of developing colon or rectal cancer. This is a dominant trait that is passed. So oftentimes family do know that they have a history of this and will begin screening in their late teenage years. With regards to the Lynch syndrome, these are often found spontaneously. We will often check what we call micro satellite instability and the tumors that we find. And with alterations in these testings, we will sometimes diagnose Lynch syndrome. And once this is found, we’ll often ask you a more detailed family history.