Cancer Prone Disease Section

نویسندگان

  • Maartje Nielsen
  • Frederik J Hes
چکیده

The penetrance for colon polyps is close to 100% and bi-allelic MUTYH mutation carriers generally develop 10-100’s adenomatous polyps/adenomas of the colon and the rectum. Approximately one third of patients also develop polyps/adenomas in the upper gastrointestinal tract. Other manifestations frequently seen in Familial Adenomatous Polyposis (FAP) are also present in minority of MAP patients: osteomas, pigmented retinal lesions (congenital hypertrophy of the retinal pigment epithelium; CHRPE) and tooth disorders. Recently also sebaceous gland tumors (Muir-Torre syndrome) and pilomatricomas have been reported in MAP-kindreds.

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تاریخ انتشار 2011