| Literature DB >> 27816598 |
Anne M L Jansen1, Stijn Crobach2, Willemina R R Geurts-Giele3, Brendy E W M van den Akker2, Marina Ventayol Garcia2, Dina Ruano2, Maartje Nielsen4, Carli M J Tops4, Juul T Wijnen5, Frederik J Hes4, Tom van Wezel2, Winand N M Dinjens3, Hans Morreau6.
Abstract
We investigated the presence and patterns of mosaicism in the APC gene in patients with colon neoplasms not associated with any other genetic variants; we performed deep sequence analysis of APC in at least 2 adenomas or carcinomas per patient. We identified mosaic variants in APC in adenomas from 9 of the 18 patients with 21 to approximately 100 adenomas. Mosaic variants of APC were variably detected in leukocyte DNA and/or non-neoplastic intestinal mucosa of these patients. In a comprehensive sequence analysis of 1 patient, we found no evidence for mosaicism in APC in non-neoplastic intestinal mucosa. One patient was found to carry a mosaic c.4666dupA APC variant in only 10 of 16 adenomas, indicating the importance of screening 2 or more adenomas for genetic variants.Entities:
Keywords: Wnt signaling; colorectal carcinogenesis; mutation; unexplained polyposis
Mesh：
Year: 2016 PMID： 27816598 DOI： 10.1053/j.gastro.2016.10.040
Source DB: PubMed Journal: Gastroenterology ISSN： 0016-5085 Impact factor: 22.682