Article
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases.
Journal of medical genetics - 1 Mar 2016
Spier Isabel, Drichel Dmitriy, Kerick Martin, Kirfel Jutta, Horpaopan Sukanya, Laner Andreas, Holzapfel Stefanie, Peters Sophia, Adam Ronja, Zhao Bixiao, Becker Tim, Lifton Richard P, Perner Sven, Hoffmann Per, Kristiansen Glen, Timmermann Bernd, Nöthen Markus M, Holinski-Feder Elke, Schweiger Michal R, Aretz Stefan
Abstract excerpt
BACKGROUND: In 30-50% of patients with colorectal adenomatous polyposis, no germline mutation in the known genes APC, causing familial adenomatous polyposis, MUTYH, causing MUTYH-associated polyposis, or POLE or POLD1, causing polymerase-proofreading-associated polyposis can be identified, although a hereditary aetiology is likely. This study aimed to explore the impact of APC mutational mosaicism in unexplained...
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