Mutation Profiling of Premalignant Colorectal Neoplasia.


Journal

Gastroenterology research and practice
ISSN: 1687-6121
Titre abrégé: Gastroenterol Res Pract
Pays: Egypt
ID NLM: 101475557

Informations de publication

Date de publication:
2019
Historique:
received: 30 04 2019
accepted: 16 10 2019
entrez: 30 11 2019
pubmed: 30 11 2019
medline: 30 11 2019
Statut: epublish

Résumé

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 (

Identifiants

pubmed: 31781186
doi: 10.1155/2019/2542640
pmc: PMC6875414
doi:

Types de publication

Journal Article

Langues

eng

Pagination

2542640

Informations de copyright

Copyright © 2019 Jakub Karczmarski et al.

Déclaration de conflit d'intérêts

The authors declare that there are no conflicts of interest.

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Auteurs

Jakub Karczmarski (J)

Department of Genetics, Maria Sklodowska-Curie Institute-Oncology Center, 02-781 Warsaw, Poland.

Krzysztof Goryca (K)

Department of Genetics, Maria Sklodowska-Curie Institute-Oncology Center, 02-781 Warsaw, Poland.

Jacek Pachlewski (J)

Department of Gastroenterology, Hepatology and Clinical Oncology, Center for Postgraduate Medical Education, 01-813 Warsaw, Poland.

Michalina Dabrowska (M)

Department of Genetics, Maria Sklodowska-Curie Institute-Oncology Center, 02-781 Warsaw, Poland.

Kazimiera Pysniak (K)

Department of Genetics, Maria Sklodowska-Curie Institute-Oncology Center, 02-781 Warsaw, Poland.

Agnieszka Paziewska (A)

Department of Gastroenterology, Hepatology and Clinical Oncology, Center for Postgraduate Medical Education, 01-813 Warsaw, Poland.

Maria Kulecka (M)

Department of Gastroenterology, Hepatology and Clinical Oncology, Center for Postgraduate Medical Education, 01-813 Warsaw, Poland.

Malgorzata Lenarcik (M)

Department of Gastroenterology, Hepatology and Clinical Oncology, Center for Postgraduate Medical Education, 01-813 Warsaw, Poland.
Department of Pathology and Laboratory Diagnostics, Maria Sklodowska-Curie Institute-Oncology Center, 02-781 Warsaw, Poland.

Andrzej Mroz (A)

Department of Pathology and Laboratory Diagnostics, Maria Sklodowska-Curie Institute-Oncology Center, 02-781 Warsaw, Poland.
Department of Pathomorphology, Center for Postgraduate Medical Education, 01-813 Warsaw, Poland.

Michal Mikula (M)

Department of Genetics, Maria Sklodowska-Curie Institute-Oncology Center, 02-781 Warsaw, Poland.

Jerzy Ostrowski (J)

Department of Genetics, Maria Sklodowska-Curie Institute-Oncology Center, 02-781 Warsaw, Poland.
Department of Gastroenterology, Hepatology and Clinical Oncology, Center for Postgraduate Medical Education, 01-813 Warsaw, Poland.

Classifications MeSH