Article
Somatic APC mosaicism: an underestimated cause of polyposis coli.
Gut - 1 Jan 2008
Hes F J, Nielsen M, Bik E C, Konvalinka D, Wijnen J T, Bakker E, Vasen H F A, Breuning M H, Tops C M J
Abstract excerpt
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...
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