Molecular diagnosis of familial adenomatous polyposis.

  title={Molecular diagnosis of familial adenomatous polyposis.},
  author={Steven M. Powell and G. M. van Petersen and Anne J Krush and Susan V Booker and Jin Jen and Francis M. Giardiello and Stanley R. Hamilton and Bert Vogelstein and Kenneth W. Kinzler},
  journal={The New England journal of medicine},
  volume={329 27},
BACKGROUND Familial adenomatous polyposis is an inherited disease characterized by multiple colorectal tumors. The diagnosis has classically been based on the detection of multiple colorectal adenomas. The recent identification of germline mutations of the APC gene in patients with familial adenomatous polyposis makes presymptomatic molecular diagnosis possible, but the widespread distribution of the many mutations within this very large gene have heretofore made the search for such mutations… CONTINUE READING

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