The Role of the Adenomatous Polyposis Coli (Apc) Gene in Human Cancers

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The gene responsible for familial adenomatous polyposis (FAP) is identified as the adenomatous polyposis coli (APC) gene, which codes 2843 amino acids. This chapter discusses the role of APC in human cancers. The APC gene is expressed in various organs and five forms of noncoding transcripts generated by alternative splicing are identified. The identification of the APC gene and the germline mutations of the APC gene in familial adenomatous polyposis patients are reported in the chapter. The 121 germline mutations types and 85 somatic mutations types in the APC gene are tabulated in the chapter. The distribution of germline mutations and somatic mutations in the APC gene in FAP patients or colorectal tumors are diagrammatically presented in the chapter. It also summarizes the nucleotide changes detected as germline point mutations of the APC gene in FAP patients. Comparisons of germline mutations with clinical manifestations in FAP patients are also provided in the chapter. In the chapter, presymptomatic diagnosis for members of FAP families by the direct detection of the mutation and the summary of polymorphisms in the APC gene is also reviewed. The somatic mutations of the APC gene in other human cancers—namely gastric cancer and primary sporadic tumors, such as kidney, liver, or lung—are also examined.