Somatic APC mosaicism: an underestimated cause of polyposis coli

@article{Hes2007SomaticAM,
  title={Somatic APC mosaicism: an underestimated cause of polyposis coli},
  author={Frederik J. Hes and Maartje Nielsen and Elsa C. Bik and David Konvalinka and Juul Th. Wijnen and Egbert Bakker and Hans F A Vasen and Martijn H. Breuning and Carli M.J. Tops},
  journal={Gut},
  year={2007},
  volume={57},
  pages={71 - 76}
}
Background: The patient with 10 or more adenomas in the colon poses a diagnostic challenge. Beside germline mutations in the APC and MUTYH genes, only four cases of mosaic APC mutations have been reported. Aim: Given the relatively high frequency of de novo APC mutations in familial adenomatous polyposis (FAP), an investigation was carried out into whether the proportion of somatic mosaic APC mutations is currently underestimated. Methods: Between 1 January 1994 and 31 December 2005 germline… Expand
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