Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity.

  title={Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity.},
  author={Rodney J. Scott and Cliff J. Meldrum and Renee Crooks and Allan D. Spigelman and Jeremy M. W. Kirk and Kathy Tucker and David J Koorey},
  volume={48 4},
Familial adenomatous polyposis (FAP) is characterised by the presence of profuse colonic carpeting of adenomas throughout the entire colon and rectum. The genetic basis of FAP has been shown to be primarily associated with germline mutations in the APC gene. Notwithstanding, several reports have been published indicating that there is genetic heterogeneity in FAP and that the most likely explanation is the existence of another gene. In this report we further delineate the genotype/phenotype… CONTINUE READING
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