Living with Turcot syndrome
An inherited tumor syndrome linking brain tumors with colon polyps or colorectal cancer.
Understanding Turcot syndrome
Type 1 is characterized by a brain tumor called glioblastoma and is often linked with hereditary nonpolyposis colorectal cancer. Type 2 is characterized by a brain tumor called medulloblastoma and familial adenomatous polyposis, which causes many colon polyps.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, brain and nervous system specialists, cancer specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Krishnan Family Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the PMS2, MLH1, MSH2, or APC genes. The summary describes it as autosomal dominant, though the record also lists autosomal recessive.
Also known as: constitutional mismatch repair deficiency syndrome; mismatch repair cancer syndrome; turcot's syndrome
Patient organizations
- Krishnan Family FoundationTurcot syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Turcot syndrome.
Explore research for Turcot syndrome
Explore actively recruiting Turcot syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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