Article
Attenuated familial adenomatous polyposis: a case report with mixed features and review of genotype-phenotype correlation.
Archives of pathology & laboratory medicine - 1 Nov 2005
Ionescu Diana N, Papachristou Georgios, Schoen Robert E, Hedge Madhuri, Richards C Sue, Monzon Federico A
Abstract excerpt
Familial adenomatous polyposis represents approximately 1% of all colorectal cancers and is caused by germline mutations in the adenomatous polyposis coli (APC) gene. Most mutations are located within the first 2000 codons, and several mutational hot spots have been identified. The relative location of the mutation may be associated with the number of polyps and partially predicts specific phenotypic expression....
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