familial adenomatous polyposis [FAP] gene

Introduction

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
  • great majority of mutations result in truncation of APC
  • 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)
  • most identified point mutations in the APC gene are transitions from cytosine to other nucleotides
  • 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

More general terms

• tumor suppressor gene or anti-oncogene

Additional terms

• adenocarcinoma of the colon &/or rectum
• adenomatous polyposis coli (APC); familial adenomatous polyposis (FAP)
• 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)

Patient information

APC gene patient information

Database

• OMIM: https://mirror.omim.org/entry/175100