The right screenings can help prevent cancer before it happens or catch it at the earliest stage to improve treatment outcomes. Prevention is especially important if you’re at high risk for developing inherited colorectal cancer, which results from a hereditary syndrome or specific gene mutation that was passed on to you from one or both parents.
The Colorectal Cancer Center at the OSUCCC – James offers a specialized Hereditary Colorectal Cancer Syndrome Clinic to diagnose, prevent and treat inherited colorectal cancers. We also provide genetic counseling to reduce disease risk for entire families.
Colorectal cancer’s genetic link
Most colorectal cancers aren’t caused by something you inherited (passed from parent to child). Only about 25% of all colorectal cancers carry some familial component and 5% are associated with a hereditary syndrome. However, if one or more of your family members have had colon cancer, especially if it was diagnosed at an early age, your risk of inherited colorectal cancer increases.
- Different gene variants are responsible for different syndromes.
- Cancer risks vary by syndrome. Some gene variants result in a 100% chance of developing colorectal cancer, while others are less likely, but still much higher than the general population.
- Depending on the gene variant, this can also increase a person’s risk for developing other types of cancers.
- In general, people with a hereditary colorectal cancer syndrome develop cancers at a higher rate and at a younger age than the general population. They also have an increased risk of developing colorectal polyps, which can develop into cancer.
- Hereditary colorectal cancer syndromes can impact the colon and rectum or be extracolonic and affect the stomach, small bowel, uterus, ovaries, pancreas, thyroid and skin.
- With familial adenomatous polyposis, people may develop polyps as early as 10 years old.
The most common hereditary colorectal cancer syndromes
The two main hereditary colorectal cancer syndromes — both of which will almost certainly lead to colorectal cancer without intervention — are:
- Lynch syndrome
- Occurring in one out of every 279 people in the general population, Lynch syndrome is the most common hereditary colorectal cancer syndrome. It accounts for 3% of colorectal cancer cases.
- People with Lynch syndrome carry a mutation on one of four genes and are very likely to develop cancer of the colon, rectum, uterus, small bowel, stomach, urinary tract, pancreas or skin.
- Early identification and intervention by screening and removing precancerous lesions saves lives.
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Familial adenomatous polyposis (FAP)
- This hereditary syndrome impacts the colorectum, small bowel, stomach and thyroid, and can also lead to desmoid tumors, which grow in the connective tissue. FAP is the second most common hereditary colorectal cancer syndrome, and it accounts for about 1% of all colorectal cancers.
- Patients with FAP should begin screening for colorectal cancer when they are 10-12 years old, and they will eventually need to have their colon and rectum removed as a preventive cancer measure. When this is done, their colorectal surgeon will create a new bowel reservoir and reconnect the gastrointestinal tract to maintain bowel continence and avoid a stoma.
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Other hereditary colorectal cancer syndromes
Because we’re part of one of the nation’s largest academic health care centers, we’re able to diagnose, prevent and treat even rare genetic syndromes. Although less common than Lynch syndrome or familial adenomatous polyposis, a few of the other hereditary colorectal cancer syndromes that can be managed in our clinic include:
- MUTYH-associated polyposis is caused by a rare gene mutation that leads to precancerous polyps in the colon and rectum.
- Peutz-Jeghers syndrome generates noncancerous growths called hamartomatous polyps in the gastrointestinal tract.
- PTEN hamartoma tumor syndrome (Cowden syndrome) also leads to hamartomas, but they appear most frequently on the skin and mucous membranes.
- Juvenile polyposis syndrome often leads to polyps before the age of 20.
- Li-Fraumeni syndrome causes changes in the TP53 gene and interrupts the development of proteins that suppress tumors.
- Hereditary diffuse gastric cancer syndrome can cause cancer cells to multiply underneath the stomach lining instead of developing into a solid tumor.
Other conditions that may raise your risk of colorectal cancer include a specific gene mutation known as APC I1307K that is often found in people of Ashkenazi Jewish descent or hyperplastic polyposis syndrome (HPS), which causes polyps in the colon and rectum but does not have a currently identified gene mutation.
The right diagnosis saves lives
Making the right diagnosis is crucial when dealing with hereditary colorectal cancer. The OSUCCC – James offers genetic counseling and testing to help you and your family members pinpoint an actual diagnosis and associated risk.
Although it can be unnerving to find out that you or another person in your family is at high risk for colorectal cancer, this can be lifesaving information. The sooner we can identify risks using genetic counseling and testing, the sooner we can begin regular screenings or interventions that may prevent cancer from ever developing.
All patients newly diagnosed with colorectal cancer will meet with our Clinical Cancer Genetics Program assistant. If a genetic risk or hereditary colorectal cancer syndrome is discovered, your first-degree relatives (parents, siblings and children) will be notified so that they can begin any needed screenings or interventions.
A team approach to targeting hereditary colorectal cancer
A team of OSUCCC – James experts from different medical specialties — colorectal surgery, gastroenterology, genetic counseling, gynecology, oncology and endocrinology — work together to provide each patient the individualized care they need. Care plans for each member of your family can include genetic testing, prevention or treatment of colorectal cancer that develops from family genetics or a hereditary syndrome.
We also understand the stress of managing your family’s health, so anytime multiple appointments are needed to see different specialists, we will do our best to schedule those visits for the same day.
Future health screening
Colorectal cancer screening is important for both prevention of disease and to improve the medical community’s data on the number of new cases, extent of disease, treatment success and survival rates.
Your care team will recommend a screening schedule based on your individual diagnosis, along with additional screening tests for other cancers.
- If you have a higher risk of colorectal cancer due to genetics, you may need more frequent screening starting at an earlier age.
- Once you’ve had colorectal cancer, you may be at higher risk for developing other types of cancer as well, including endometrial, ovarian, gastric, small bowel and pancreatic cancer.
Research-driven care
The Hereditary Colorectal Cancer Syndrome Clinic at the OSUCCC – James maintains a database of people diagnosed with hereditary colorectal cancer syndrome to allow tracking of each specific diagnosis, genetic mutation, phenotype and treatment response. The resulting data supports a more targeted approach to your specific genetic variants.
In addition, research and findings from the Ohio Colorectal Cancer Prevention Initiative (OCCPI) advances the care we provide for you. Funded by monies raised through Pelotonia, OCCPI is a statewide initiative to identify Lynch syndrome in those with colorectal cancer. This screening effort helps us identify and begin preventive care for at-risk families.
Another research initiative, the Cancer Biology Program at the OSUCCC – James, is working to identify genetic pathways and proteins that may help prevent the development of cancer or enhance its treatment. Using sample cells from precancerous colorectal polyps or cancers grown in the lab, Ohio State researchers are trying to understand the underlying causes of why some cancers respond better to certain treatments. These discoveries can lead to drug breakthroughs that may slow the growth of polyps or make chemoprevention more effective.
Clinic team
Physician leadership
Matthew Kalady, MD
Peter Stanich, MD
Genetics
Maegan Roberts, MS, LGC
Josie Baker, MS, LGC
Rachel Pearlman, MS, LGC
Katie Baker, Clinical Cancer Genetics Program assistant
Esther Hall, hereditary coordinator
Our location
The James Martha Morehouse Outpatient Care
Helpful links
Genetic counseling at the James
Innovations in Gastroenterology and GI and Colorectal Surgery
Division of General and GI Surgery
Division of Colon and Rectal Surgery