Article
Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH.
Lancet (London, England) - 5 Jul 2003
Sampson Julian R, Dolwani Sunil, Jones Sian, Eccles Diana, Ellis Anthony, Evans D Gareth, Frayling Ian, Jordan Sheila, Maher Eamonn R, Mak Tony, Maynard Julie, Pigatto Francesca, Shaw Joan, Cheadle Jeremy P
Abstract excerpt
Familial adenomatous polyposis (FAP) and attenuated FAP are autosomal dominant disorders characterised by multiple colorectal adenomas and cancers. Both are caused by inherited mutations in the APC gene, and management includes genetic testing, colonoscopic surveillance, and prophylactic surgery for the relatives of index cases. Among 614 families recorded in six regional registers of polyposis in the UK, we...
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