Article
Mutational spectrum of APC and genotype-phenotype correlations in Greek FAP patients.
BMC cancer - 22 Jul 2010
Fostira Florentia, Thodi Georgia, Sandaltzopoulos Raphael, Fountzilas George, Yannoukakos Drakoulis
Abstract excerpt
BACKGROUND: Familial adenomatous polyposis, an autosomal dominant inherited disease caused by germline mutations within the APC gene, is characterized by early onset colorectal cancer as a consequence of the intrinsic phenotypic feature of multiple colorectal adenomatic polyps. The genetic investigation of Greek adenomatous polyposis families was performed in respects to APC and MUTYH germline mutations....
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