Diminished Pms2 Expression C6055320
A genetic condition where reduced PMS2 gene expression impairs DNA mismatch repair, predisposing to colorectal and other cancers. Follows autosomal dominant inheritance. Cancer surveillance is essential.
Key facts at a glance
- ICD-10
- C80.1
- ICD-11
- 2A00.0
- Body system
- oncologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(oncologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
PMS2-specific cancer surveillance
PMS2 carriers have relatively lower penetrance; start colonoscopy at age 30 or 5 years before earliest family case. Biannual interval if no polyps found.
Vitamin D supplementation
Adequate vitamin D status through sun exposure and supplementation may have protective effects against colorectal neoplasia. Check levels and supplement as needed.
Additional treatment options
Calcium supplementation
Calcium supplementation may reduce adenoma recurrence in high-risk individuals. Often combined with vitamin D for synergistic effect.
medicationRed meat limitation
Reduced consumption of red and processed meats which are associated with increased colorectal cancer risk. Replace with fish, poultry, and plant proteins.
dietaryRisk perception counseling
Addressing cancer worry and developing coping strategies for living with hereditary cancer risk. Cognitive behavioral techniques for managing scanxiety and health anxiety.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Diminished Pms2 Expression C6055320?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Diminished Pms2 Expression C6055320. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy