Living with Mismatch repair cancer syndrome 1
An inherited condition with many colon polyps and a higher chance of colorectal cancer and brain tumors.
Understanding Mismatch repair cancer syndrome 1
It may be linked with familial adenomatous polyposis (FAP) or Lynch syndrome. The brain tumors linked with APC gene changes are typically medulloblastoma, while those with mismatch repair gene changes are usually glioblastoma multiforme. Some people also have skin patches called cafe-au-lait spots.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Many polyps in the colon
- Brain tumors, such as glioblastoma or astrocytoma
- Lymphoma (cancer of the lymph system)
- Light brown skin patches (cafe-au-lait spots)
- Missing corpus callosum (the bridge between brain halves)
- Gray matter that formed in the wrong place
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
FORCE: Facing Our Risk of Cancer Empowered may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: FORCE: Facing Our Risk of Cancer Empowered
- 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 FORCE: Facing Our Risk of Cancer Empowered 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
Most mismatch repair cancer syndromes are due to a change in the APC gene (linked with FAP) or in a mismatch repair gene such as MLH1 or PMS2 (linked with Lynch syndrome). GARD lists this condition as autosomal recessive in this record, but also notes it typically follows an autosomal dominant pattern.
Also known as: brain tumor-polyposis syndrome 1; btp1 syndrome; childhood cancer syndrome; mismatch repair deficiency; mlh1-related constitutional mismatch repair deficiency syndrome; mmr deficiency
Patient organizations
- FORCE: Facing Our Risk of Cancer EmpoweredMismatch repair cancer syndrome 1 · United States
- American Cancer SocietyMismatch repair cancer syndrome 1 · United States
- CancerCareMismatch repair cancer syndrome 1 · United States
- Colon Cancer AllianceMismatch repair cancer syndrome 1 · United States
- Krishnan Family FoundationMismatch repair cancer syndrome 1 · United States
You are more than your diagnosis
Perspectives from people navigating life with Mismatch repair cancer syndrome 1.
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