By Lisa A. Boardman
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Extra info for Intestinal Polyposis Syndromes: Diagnosis and Management
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Mork Clinical Cancer Genetics Program, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA E. D. A. E. Mork and E. Vilar Clinical Characteristics MAP is an autosomal recessive condition caused by biallelic mutations of MUTYH with a prevalence of 1:20,000 to 1:40,000 based on the estimated carrier frequency of 1–2 % in the general population . MAP is typically characterized by the development of 10 to 100 adenomatous polyps in the colorectum, most frequently located in the proximal colon, and confers a life-time risk of CRC ranging from 43 % to nearly 100 %, being diagnosed at an average age of 48 .
1146/ annurev-med-050913-022545. Chapter 2 MUTYH-Associated Polyposis Maureen E. Mork and Eduardo Vilar Introduction Lynch syndrome and familial adenomatous polyposis (FAP) have long been identified as hereditary predisposition syndromes to colorectal cancer (CRC), most easily recognized on the basis of their autosomal dominant inheritance, young age of onset of CRC and other associated malignancies, and, in the case of FAP, the presence of adenomatous polyposis. However, in 2002 the first report of a novel hereditary predisposition to CRC describing a family with three siblings affected with CRC and polyposis who were negative for germline APC mutations was published .