Turcot Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Turcot Syndrome?
A primary care doctor usually coordinates care and screening. A gastroenterologist manages colonoscopy and polyp removal. A geneticist or genetic counselor helps with testing, and a neurosurgeon or cancer specialist treats brain tumors. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Turcot syndrome?
Turcot syndrome is a rare inherited condition. People with it develop many polyps, which are small growths on the inner lining of the colon. They also have a higher risk of brain tumors. It is not a separate disease with its own gene. Doctors now consider it a variant of two better-known conditions, Lynch syndrome and familial adenomatous polyposis.
Turcot syndrome combines many colon polyps with an increased chance of brain or spinal cord tumors, most often glioblastoma or medulloblastoma. The polyps can turn into cancer, so lifelong monitoring is needed.
Symptoms
Many people have no symptoms, which is why screening matters so much. Possible signs of polyps or colon cancer include blood in the stool, changes in bowel habits, belly pain, weight loss, and tiredness. Brain tumors can cause headaches, seizures, or vision changes.
Causes and who gets it
Turcot syndrome is caused by inherited gene changes. Changes in a gene called APC cause the form related to familial adenomatous polyposis, which causes hundreds of colon polyps. Changes in MLH1, MSH2, or MSH6 cause the form related to Lynch syndrome. It is rare.
How doctors diagnose it
Diagnosis starts with a family history and a colonoscopy. If many polyps are found, doctors may order genetic testing, a blood or saliva test for the inherited gene changes. MRI can check the brain or spinal cord if a tumor is suspected.
Treatment
Treatment focuses on preventing cancer and removing tumors. Doctors often recommend regular colonoscopies so polyps can be removed. When polyps are too numerous to remove one by one, surgery to remove the colon may be advised. Brain tumors are treated with surgery, radiation, or chemotherapy.
When to see a doctor
Anyone with a family history of colon polyps, colon cancer at a young age, or brain tumors should ask a doctor about genetic counseling. Seek care for blood in the stool, major bowel changes, weight loss, seizures, or new vision problems.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either type can spend extra time on complex conditions, handling routine monitoring, ordering colonoscopies, and coordinating with specialists.
Common questions
Is Turcot syndrome the same as colon cancer?
No. It is an inherited condition that greatly raises the risk of colon cancer and brain tumors. With regular screening, many people avoid cancer or have it caught early.
Can Turcot syndrome be cured?
The inherited gene change cannot be removed. Regular screening and surgery to remove polyps can greatly lower the chance of colon cancer. Outcomes differ from person to person.
Should my family members get tested?
If a gene change is found in you, close relatives may be offered testing. A genetic counselor can help families decide who should be tested and when.
How often are colonoscopies needed?
It depends on the gene change and the number of polyps. The doctor who manages your care will set a schedule based on expert guidelines.
Sources
- NIH Genetic and Rare Diseases Information Center - Turcot syndrome
- MedlinePlus Genetics - Lynch syndrome
- MedlinePlus Genetics - Familial adenomatous polyposis
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
