Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis.

@article{Aretz2005LargeSG,
  title={Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis.},
  author={Stefan Aretz and Dietlinde Stienen and Siegfried Uhlhaas and Constanze Pagenstecher and Elisabeth Mangold and Reiner Caspari and P. Propping and Waltraut Friedl},
  journal={Journal of medical genetics},
  year={2005},
  volume={42 2},
  pages={185-92}
}
F amilial adenomatous polyposis (FAP, OMIM #175100) is an autosomal dominant precancerous condition characterised by the appearance of hundreds to thousands of colorectal adenomas that, if not detected early and removed, invariably result in colorectal cancer (CRC). In the typical phenotype, adenomas usually occur within the second decade and become symptomatic during the third decade of life. In the attenuated FAP (AFAP) phenotype, the number of colorectal adenomas is ,100, with a later age at… CONTINUE READING
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