Article
NTHL1 and MUTYH polyposis syndromes: two sides of the same coin?
The Journal of pathology - 1 Feb 2018
Weren Robbert DA, Ligtenberg Marjolijn Jl, Geurts van Kessel Ad, De Voer Richarda M, Hoogerbrugge Nicoline, Kuiper Roland P
Abstract excerpt
It is now well established that germline genomic aberrations can underlie high-penetrant familial polyposis and colorectal cancer syndromes, but a genetic cause has not yet been found for the major proportion of patients with polyposis. Since next-generation sequencing has become widely accessible, several novel, but rare, high-penetrant risk factors for adenomatous polyposis have been identified, all operating...
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