MUTYH polyposis is caused by germline mutations of the MUTYH gene, a base excision repair gene. The most common variants are Y179C and G396D (1 General references 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... read more ). Affected patients are homozygous or compound heterozygous. About 1% of the population carries one of the mutations (2 General references 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... read more ).
Affected patients usually present with numerous colon polyps at 60 to 70 years of age, and more than half present with colorectal cancer Colorectal Cancer Colorectal cancer is extremely common. Symptoms include blood in the stool and change in bowel habits. Diagnosis is by colonoscopy. Treatment is surgical resection and chemotherapy for nodal... read more 
. The disorder is present in 7 to 40% of patients who have > 10 adenomas (1 General references 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... read more ).
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 Familial Adenomatous Polyposis Familial adenomatous polyposis is a hereditary disorder causing numerous colonic polyps and frequently results in colon carcinoma, often by age 40. Patients are usually asymptomatic but may... read more 
). 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 colorectal polyps Polyps of the Colon and Rectum An intestinal polyp is any mass of tissue that arises from the bowel wall and protrudes into the lumen. Most are asymptomatic except for minor bleeding, which is usually occult. The main concern... read more 
or colorectal cancer Symptoms and Signs Colorectal cancer is extremely common. Symptoms include blood in the stool and change in bowel habits. Diagnosis is by colonoscopy. Treatment is surgical resection and chemotherapy for nodal... read more , and evaluation and treatment of the tumors are the same.
General references
1. Sieber OM, Lipton L, Crabtree M, et al: Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. N Engl J Med 348:791–799, 2003. doi: 10.1056/NEJMoa025283
2. Cleary SP, Cotterchio M, Jenkins MA, et al: Germline MutY human homologue mutations and colorectal cancer: A multisite case-control study. Gastroenterology 136(4):1251-1260, 2009. doi: 10.1053/j.gastro.2008.12.050
Diagnosis of MUTYH Polyposis Syndrome
Genetic testing
Genetic testing is required to establish the diagnosis.
Testing the spouse of an affected patient for the MUTYH gene may be cost-effective; if the spouse is heterozygous, their children should then have genetic testing for this disorder.
Screening
Affected patients should have surveillance colonoscopy every 1 to 2 years starting at age 25 to 30. They should have upper endoscopy starting at age 30 to 35. The frequency of this test depends on the presence of gastroduodenal polyps. Fundic gland polyps should be biopsied for dysplasia.
Annual thyroid screening with physical examination and ultrasonography is also recommended. Patients also frequently undergo surveillance for ovarian, bladder, and skin cancers; however, no consensus guidelines exist to guide the specific frequency.
Monoallelic carriers are screened for colorectal cancer with colonoscopy every 5 years beginning at age 40 (similar to a person who has a first-degree relative with colorectal cancer).
Treatment of MUTYH Polyposis Syndrome
Endoscopic removal
Sometimes surgical resection
Endoscopic management (eg, polypectomy, mucosal resection) is the main treatment of MUTYH polyposis syndrome.
If cancer is present or the polyp burden is too large, surgical resection is needed. Partial, subtotal, or total colectomy are the surgical options, depending on the extent and burden of disease.
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
American Gastroenterological Association: Guidelines for genetic testing and management of hereditary gastrointestinal cancer syndromes (2015)
