MUTYH Associated Polyposis
Clinical
- Genetic counseling should be offered before genetic testing is performed
- Autosomal recessive with unknown penetrance
- Mean age of carcinoma is 45 years
- Colectomy with constant surveillance of rectum or complete proctocolectomy removes the threat of colorectal carcinoma
- Extra-colorectal neoplasms very rare
- Screening
- If MUTYH mutation is identified, screen positive family members starting at age 10
- If mutation not identified, screen all family members from age 10
- All patients diagnosed with MAP require upper GI screening
