Mutation Profiling of Premalignant Colorectal Neoplasia
Joint Authors
Michal, Mikula
Jerzy, Ostrowski
Goryca, Krzysztof
Mroz, Andrzej
Dabrowska, Michalina
Karczmarski, Jakub
Paziewska, Agnieszka
Kulecka, Maria
Pachlewski, Jacek
Pysniak, Kazimiera
Lenarcik, Malgorzata
Source
Gastroenterology Research and Practice
Issue
Vol. 2019, Issue 2019 (31 Dec. 2019), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2019-11-12
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Accumulation of allelic variants in genes that regulate cellular proliferation, differentiation, and apoptosis may result in expansion of the aberrant intestinal epithelium, generating adenomas.
Herein, we compared the mutation profiles of conventional colorectal adenomas (CNADs) across stages of progression towards early carcinoma.
DNA was isolated from 17 invasive adenocarcinomas (ACs) and 58 large CNADs, including 19 with low-grade dysplasia (LGD), 21 with LGD adjacent to areas of high-grade dysplasia and/or carcinoma (LGD-H), and 28 with high-grade dysplasia (HGD).
Ion AmpliSeq Comprehensive Cancer Panel libraries were prepared and sequenced on the Ion Proton.
We identified 956 unique allelic variants; of these, 499 were considered nonsynonymous variants.
Eleven genes (APC, KRAS, SYNE1, NOTCH4, BLNK, FBXW7, GNAS, KMT2D, TAF1L, TCF7L2, and TP53) were mutated in at least 15% of all samples.
Out of frequently mutated genes, TP53 and BCL2 had a consistent trend in mutation prevalence towards malignancy, while two other genes (HNF1A and FBXW7) exhibited the opposite trend.
HGD adenomas had significantly higher mutation rates than LGD adenomas, while LGD-H adenomas exhibited mutation frequencies similar to those of LGD adenomas.
A significant increase in copy number variant frequency was observed from LGD through HGD to malignant samples.
The profiling of advanced CNADs demonstrated variations in mutation patterns among colorectal premalignancies.
Only limited numbers of genes were repeatedly mutated while the majority were altered in single cases.
Most genetic alterations in adenomas can be considered early contributors to colorectal carcinogenesis.
American Psychological Association (APA)
Karczmarski, Jakub& Goryca, Krzysztof& Pachlewski, Jacek& Dabrowska, Michalina& Pysniak, Kazimiera& Paziewska, Agnieszka…[et al.]. 2019. Mutation Profiling of Premalignant Colorectal Neoplasia. Gastroenterology Research and Practice،Vol. 2019, no. 2019, pp.1-9.
https://search.emarefa.net/detail/BIM-1154918
Modern Language Association (MLA)
Karczmarski, Jakub…[et al.]. Mutation Profiling of Premalignant Colorectal Neoplasia. Gastroenterology Research and Practice No. 2019 (2019), pp.1-9.
https://search.emarefa.net/detail/BIM-1154918
American Medical Association (AMA)
Karczmarski, Jakub& Goryca, Krzysztof& Pachlewski, Jacek& Dabrowska, Michalina& Pysniak, Kazimiera& Paziewska, Agnieszka…[et al.]. Mutation Profiling of Premalignant Colorectal Neoplasia. Gastroenterology Research and Practice. 2019. Vol. 2019, no. 2019, pp.1-9.
https://search.emarefa.net/detail/BIM-1154918
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1154918