gastrointestinal disorders
MUTYH Polyposis Syndrome
Introduction
MUTYH polyposis syndrome is a rare autosomal recessive disorder responsible for<1% of colorectal cancer. Manifestations are similar to other forms of colorectal polyps or cancer. Diagnosis is by genetic testing. Patients should have surveillance colonoscopy and screening for other cancers, particularly gastroduodenal, thyroid, bladder, ovarian, and skin. Treatment is endoscopic removal or sometimes surgery. gene, a base excision repair gene. The most common variants are Y179C and G396D ( General references ). Affected patients are homozygous or compound heterozygous. About 1% of the population carries one of the mutations ( Affected patients usually present with numerous colon polyps at 60 to 70 years of age, and more than half present with Colorectal Cancer . The disorder is present in 7 to 40% of patients who have > 10 adenomas ( In addition to colon cancer, affected individuals are at increased risk of gastroduodenal adenomas, osteomas, desmoid tumors, Muir-Torre phenotype with sebaceous gland tumors, and congenital hypertrophy of the retinal pigment epithelium (a feature also occurring in patients with Familial Adenomatous Polyposis ). Affected individuals are also at risk of developing cancer of the ovary, bladder, thyroid, and skin. MUTYH polyposis syndrome causes symptoms and signs similar to those of Polyps of the Colon and Rectum or 