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

AML Jansen; Stijn Crobach; Willemina R R Geurts-Giele; Brendy E W M van den Akker; Marina Ventayol Garcia; Dina Ruano; Maartje Nielsen; Carli Mj Tops; Juul T. Wijnen; Frederik J. Hes; Tom van Wezel; Winand N M Dinjens; Hans Morreau

doi:10.1053/j.gastro.2016.10.040

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

AML Jansen
, Stijn Crobach
, Willemina R R Geurts-Giele
, Brendy E W M van den Akker
, Marina Ventayol Garcia
, Dina Ruano
, Maartje Nielsen
, Carli Mj Tops
, Juul T. Wijnen
, Frederik J. Hes
, Tom van Wezel
, Winand N M Dinjens
, Hans Morreau

Research output: Contribution to journal › Article › Academic › peer-review

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.

Original language	English
Pages (from-to)	546-549
Journal	Gastroenterology
Volume	152
Issue number	3
DOIs	https://doi.org/10.1053/j.gastro.2016.10.040
Publication status	Published - Feb 2017
Externally published	Yes

Keywords

Wnt signaling
colorectal carcinogenesis
mutation
unexplained polyposis

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10.1053/j.gastro.2016.10.040

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Jansen, AML., Crobach, S., Geurts-Giele, W. R. R., van den Akker, B. E. W. M., Ventayol Garcia, M., Ruano, D., Nielsen, M., Tops, C. M., Wijnen, J. T., Hes, F. J., van Wezel, T., Dinjens, W. N. M., & Morreau, H. (2017). Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis. Gastroenterology, 152(3), 546-549. https://doi.org/10.1053/j.gastro.2016.10.040

@article{c4a051d171c84e368bd9b3df6e835101,

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

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.",

keywords = "Wnt signaling, colorectal carcinogenesis, mutation, unexplained polyposis",

author = "AML Jansen and Stijn Crobach and Geurts-Giele, \{Willemina R R\} and \{van den Akker\}, \{Brendy E W M\} and \{Ventayol Garcia\}, Marina and Dina Ruano and Maartje Nielsen and Tops, \{Carli Mj\} and Wijnen, \{Juul T.\} and Hes, \{Frederik J.\} and \{van Wezel\}, Tom and Dinjens, \{Winand N M\} and Hans Morreau",

note = "Publisher Copyright: {\textcopyright} 2017 AGA Institute",

year = "2017",

month = feb,

doi = "10.1053/j.gastro.2016.10.040",

language = "English",

volume = "152",

pages = "546--549",

journal = "Gastroenterology",

issn = "0016-5085",

publisher = "W.B. Saunders",

number = "3",

}

Jansen, AML, Crobach, S, Geurts-Giele, WRR, van den Akker, BEWM, Ventayol Garcia, M, Ruano, D, Nielsen, M, Tops, CM, Wijnen, JT, Hes, FJ, van Wezel, T, Dinjens, WNM & Morreau, H 2017, 'Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis', Gastroenterology, vol. 152, no. 3, pp. 546-549. https://doi.org/10.1053/j.gastro.2016.10.040

TY - JOUR

T1 - Distinct Patterns of Somatic Mosaicism in the APC Gene in Neoplasms From Patients With Unexplained Adenomatous Polyposis

AU - Jansen, AML

AU - Crobach, Stijn

AU - Geurts-Giele, Willemina R R

AU - van den Akker, Brendy E W M

AU - Ventayol Garcia, Marina

AU - Ruano, Dina

AU - Nielsen, Maartje

AU - Tops, Carli Mj

AU - Wijnen, Juul T.

AU - Hes, Frederik J.

AU - van Wezel, Tom

AU - Dinjens, Winand N M

AU - Morreau, Hans

PY - 2017/2

Y1 - 2017/2

N2 - 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.

AB - 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.

KW - Wnt signaling

KW - colorectal carcinogenesis

KW - mutation

KW - unexplained polyposis

U2 - 10.1053/j.gastro.2016.10.040

DO - 10.1053/j.gastro.2016.10.040

M3 - Article

SN - 0016-5085

VL - 152

SP - 546

EP - 549

JO - Gastroenterology

JF - Gastroenterology

IS - 3

ER -

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

Abstract

Keywords

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