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In addition to classic germline  APC  gene variants,  APC  mosaicism and deep intronic germline  APC  variants have also been reported to be causes of adenomatous polyposis. In this study, we investigated 80 unexplained colorectal polyposis patients without germline pathogenic variants in known polyposis predisposing genes to detect mosaic and deep intronic  APC  variants. All patients developed more than 50 colorectal polyps, with adenomas being predominantly observed. To detect  APC  mosaicism, we performed next-generation sequencing (NGS) in leukocyte DNA. Furthermore, using Sanger sequencing, the cohort was screened for the following previously reported deep intronic pathogenic germline  APC  variants: c.1408 + 731C &gt; T, p.(Gly471Serfs*55), c.1408 + 735A &gt; T, p.(Gly471Serfs*55), c.1408 + 729A &gt; G, p.(Gly471Serfs*55) and c.532-941G &gt; A, p.(Phe178Argfs*22). We did not detect mosaic or intronic  APC  variants in the screened unexplained colorectal polyposis patients. The results of this study indicate that the deep intronic  APC  variants investigated in this study are not a cause of colorectal polyposis in this Dutch population. In addition, NGS did not detect any further mosaic variants in our cohort.

Use of sanger and next-generation sequencing to screen for mosaic and intronic APC variants in unexplained colorectal polyposis patients