Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis

作者：Jansen Anne M L; Crobach Stijn; Geurts Giele Willemina R R; van den Akker Brendy E W M; Garcia Marina Ventayol; Ruano Dina; Nielsen Maartje; Tops Carli M J; Wijnen Juul T; Hes Frederik J; van Wezel Tom; Dinjens Winand N M; Morreau Hans^*

来源：Gastroenterology, 2017, 152(3): 546-+.

DOI：10.1053/j.gastro.2016.10.040

• unexplained polyposis
• mutation
• Wnt signaling
• colorectal carcinogenesis

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.

• 出版日期2017-2