familial adenomatous polyposis [FAP] gene

Same chromosomal locus as MCC (mutated in colorectal carcinoma) gene. Pathology: (also see APC protein) - mutations in the APC gene are found in both familial & sporadic colorectal carcinoma - APC mutations a) great majority of mutations result in truncation of APC b) almost all mutations occur within the first half of the coding sequence, & somatic mutations in colorectal tumors are further clustered in a particular region, called MCR (mutation cluster region) c) most identified point mutations in the APC gene are transitions from cytosine to other nucleotides d) location of germline mutations tends to correlate with the number of colorectal polyps in FAP patients - inactivation of both alleles of the APC gene seems to be required as an early event to develop most adenomas & carcinomas in the colon & rectum as well as some of those in the stomach Laboratory: - the digital protein truncation assay tests for mutations in the adenomatous polyposis coli (APC) gene in feces

Related

adenocarcinoma of the colon &/or rectum adenomatous polyposis coli (APC); familial adenomatous polyposis (FAP) adenomatous polyposis coli protein (protein APC, APC, DP25) digital protein truncation assay flat adenoma syndrome hereditary desmoid disease (familial infiltrative fibromatosis) Mutated in Colon Carcinoma [MCC] tumor suppressor gene Turcot-Despres syndrome (mismatch repair cancer syndrome, MMRCS, brain tumor-polyposis syndrome 1)

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: adenomatous polyposis coli protein LOCUS: human chromosome-5 Q21 MOTIF: transcription factor binding site transcriptional start site exon intron transcriptional termination site

References

- Bourne HR. Colon cancer. Consider the coiled coil.... Nature. 1991 May 16;351(6323):188-90. PMID: 1645848