Article
Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis.
Journal of clinical oncology : official journal of the American Society of Clinical Oncology - 1 May 2003
Bertario L, Russo A, Sala P, Varesco L, Giarola M, Mondini P, Pierotti M, Spinelli P, Radice P
Abstract excerpt
PURPOSE: Familial adenomatous polyposis (FAP), caused by a mutation in the APC gene, is a colorectal cancer predisposition syndrome associated with several other clinical conditions. The severity of the FAP is related to the position of the inherited mutation in the APC gene. We analyzed a large series of FAP patients to identify associations among major clinical manifestations and to correlate the mutation site...
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