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APC mutations in familial adenomatous polyposis families in the Northwest of England

โœ Scribed by John G. Armstrong; D. Rhodri Davies; Simon P. Guy; Ian M. Frayling; D. Gareth R. Evans


Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
119 KB
Volume
10
Category
Article
ISSN
1059-7794

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A family is presented with attenuated familial adenomatous polyposis of variable phenotype. The clinical features range from sparse right-sided polyposis and cancer in the proximal colon at the age of 34 to pan-colonic polyposis and cancer at the age of 68. Rectal sparing is common to all affected m

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Inactivation of the adenomatous polyposis coli (APC) gene has been shown to initiate the majority of colorectal cancer (CRC), including a familial form called familial adenomatous polyposis (FAP). One consequence of the APC mutation is the activation of the โค-catenin (CTNNB1)/T-cell transcription fa