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Colorectal Genetic Testing

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Colorectal Genetic Testing

Genetic testing is an important part of our practice here at Metro Colon and Rectal Surgery PC, as we believe the information it provides can be life-saving for patients with a predisposition to colon cancer. Hereditary nonpolyposis colorectal cancer (Lynch Syndrome) and familial adenomatous polyposis (FAP) are the two most common inherited colon cancer syndromes. Those with Lynch Syndrome – the most common of the two syndromes – have an 80 percent chance of developing colon cancer in their lifetimes. For those with FAP, the rates of cancer rise to nearly 100 percent. Genetic testing can help identify a person who is at increased risk of colon cancer and provide options for early screenings and interventions.

FAQ

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Who should undergo colorectal genetic testing?

Anyone with a parent, sibling or other blood relative with Lynch Syndrome or FAP should also be screened hereditary colon cancer syndromes. We also recommend that every patient diagnosed with colorectal cancer also consider genetic testing, as doing so can help other family members determine whether they are at risk.

What can I expect from colorectal genetic testing?

We are proud to offer highly advanced medical screenings that search for known gene mutations associated with Lynch Syndrome and FAP. For Lynch Syndrome, there are a number of genes we look for, including MLH1, MSH2, MSH, PMS2 and EPCAM gene mutations. Our tests also look for mutations in the adenomatous polyposis coli (APC) gene, which is responsible for most cases of FAP. However, it is important to note that a small percentage of FAP cases are caused by new and unknown gene mutations.

What happens if my colorectal surgeon detects an inherited colon cancer risk?

For patients with Lynch Syndrome, genetic testing provides the opportunity to have earlier and more frequent colon cancer screenings, which increases the likelihood of preventing colon cancer in the future. Those with FAP may be offered medical options for reducing cancer risk or otherwise identifying colon cancer in its earlier and more treatable stages.