As part of our comprehensive care at Moores Cancer Center, UC San Diego Health provides genetic testing, genetic counselors and physician specialists to guide patients through the process of identifying, screening for and treating hereditary colon and rectal cancers.
Between 5 and 10 percent of all colorectal cancers are caused by genetic changes or mutations that can be inherited. Members of families with specific types of genetic mutations, such as Lynch syndrome, are at higher risk of developing colorectal cancer, especially if first-degree relatives (parents, siblings or children) developed certain cancers before the age of 50.
Who Should Be Tested?
It’s important to discuss your personal risk factors for developing any cancer with your physician. Genetic testing to identify hereditary colon and rectal cancer syndromes can be completed with a simple blood or oral swab test. As a general guideline, it is recommended that you should be tested if you:
- 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 more than three relatives with colorectal cancer
Benefits of Genetic Testing
The benefits of knowing you have a genetic mutation linked to colorectal cancer include the ability to:
- Develop a personalized screening and prevention plan specific to the genetic mutation and your risk factors based on National Comprehensive Cancer Network (NCCN) guidelines
- Discuss your surgical options with your physician if you are currently in treatment for colorectal cancer (for example, limited/segmented vs. total colectomy)
- Use medication and lifestyle changes to reduce your risk
- Inform your first-degree family members — who have a 1 in 2 chance of having the same mutation — to get tested
Services for Lynch Syndrome and Other Hereditary Colorectal Cancers
Family Cancer Genetics Program can assess your risk factors, such as family history or a current diagnosis, for inherited colorectal cancer and determine whether you are a candidate for genetic testing.
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.
If you are a current UC San Diego Health patient who has been diagnosed with colorectal or uterine cancer, you may be advised to undergo genetic testing to determine if you have an associated mutation.
If a genetic mutation is identified, gastroenterologist
Samir Gupta, MD — one of only a few inherited colorectal cancer specialists in the U.S. — will take the lead in your care. Depending on the type of mutation, you will receive a plan with personalized management and prevention strategies, which may include:
- Colorectal cancer screenings, such as a colonoscopy, that are performed at an earlier age and more frequently than in people without a genetic mutation
- Additional screening tests (such as endoscopy or uterine biopsy) for other related cancers, including endometrial, ovarian, gastric, small bowel and pancreatic cancer
- Certain medications that may be helpful in reducing the risk of colorectal cancer
- Surgical options to prevent recurrence