作者: Julian R. Sampson , Natalie Jones
DOI: 10.1016/J.BPG.2009.03.006
关键词:
摘要: MUTYH-associated polyposis (MAP) is an autosomal recessive disorder characterised by adenomatous polyps of the colorectum and a very high risk colorectal cancer. It appears to be at least as prevalent dominant familial (that caused truncating mutations in APC gene) with which it shares important gastroenterological features. was first recognised recently 2002 its full phenotype natural history are still being characterised. Key extracolonic manifestations include predisposition duodenal adenomas cancer modest increase for several extraintestinal tumours. Testing MUTYH gene indicated patients who have multiple or family suggestive siblings spouses MAP order inform surveillance treatment their families.