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Colorectal Cancer High-Risk Program

As part of our comprehensive cancer care, UC San Diego Health offers genetic testing to help identify whether you have a higher risk of hereditary colorectal cancer.

Between 5 and 10 percent of all colorectal cancers are caused by genetic mutations that can be inherited. If you're a member of a family with a specific type of genetic mutation, such as Lynch syndrome, you are at higher risk of developing colorectal cancer. This is especially true when you have a parent, sibling or child who developed certain cancers before the age of 50.

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Should I Be Tested?

We can assess your risk factors for inherited colorectal cancer and determine if you are a candidate for genetic testing. Testing is generally recommended if you have one of the following risk factors.

Have a first-degree relative with colorectal cancer that was diagnosed before the age of 50

Have had colorectal cancer OR multiple polyps diagnosed before the age of 50

Have had colorectal cancer AND multiple polyps diagnosed at any age

Have had uterine cancer diagnosed before the age of 50

Have had more than three relatives with colorectal cancer

Screening Services for Lynch Syndrome and Other Hereditary Colorectal Cancers

We offer testing for Lynch syndrome, also known as hereditary non-polyposis colon cancer (NPCC), the most common inherited form of colorectal cancer. Testing can also identify familial adenomatous polyposis (FAP), juvenile polyposis, and MYH-associated polyposis, Cowden syndrome, Peutz-Jeghers syndrome, Li-Fraumeni syndrome, and hereditary diffuse gastric cancer syndrome.

Genetic testing may also be used to refine your treatment plan if you have colorectal or uterine cancer. It can be completed with a simple blood or oral swab test.

Benefits of Knowing Your Genetic Risk

If you have a genetic mutation linked to increased cancer risk, you and your provider can discuss how to interpret and use the information in the context of your health history and lifestyle choices. Below are some ways the results from genetic testing may be used to protect you and your family members.

Personalized Screening

Your doctor may recommend a personalized screening and prevention plan specific to your genetic mutation based on National Comprehensive Cancer Network (NCCN) guidelines. This may include a colonoscopy at an earlier age and more frequently than those without a mutation.

Additional Screening

Your doctor may also recommend additional screening tests (such as endoscopy or uterine biopsy) for other related cancers, including endometrial, ovarian, gastric, small bowel and pancreatic cancer.

Medications

Certain medications may reduce your colorectal cancer risk.

Surgery

If you are currently in treatment for colorectal cancer, you may discuss surgical options with your physician, such as limited or segmented vs total colectomy.

Family Testing

You may inform your first-degree family members — who have a 1 in 2 chance of having the same mutation — to get tested.

Colorectal Cancer Screening Specialist

Individuals at higher risk of colorectal cancer will be referred to gastroenterologist Samir Gupta, MD — one of only a few inherited colorectal cancer specialists in the U.S. He will personalize your prevention strategies or care plan.