Genomic profiles of Indonesian colorectal cancer patients.

Autor:	Abdullah M; Division of Gastroenterology, Pancreatobiliary, and Digestive Endoscopy, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia - Dr. Cipto Mangunkusumo National General Hospital, Jakarta, 10430, Indonesia.; Human Cancer Research Center, Indonesian Medical Education and Research Institute, Faculty of Medicine, Universitas Indonesia, Jakarta, 10430, Indonesia., Meilany S; Virology and Cancer Pathobiology Research Center, Faculty of Medicine, Universitas Indonesia - Dr. Cipto Mangunkusumo National General Hospital, Jakarta, 10430, Indonesia., Trimarsanto H; Eijkman Institute for Molecular Biology, Ministry of Research and Technology/National Research and Innovation Agency, Jakarta, 10430, Indonesia., Malik SG; Eijkman Institute for Molecular Biology, Ministry of Research and Technology/National Research and Innovation Agency, Jakarta, 10430, Indonesia., Sukartini N; Department of Clinical Pathology, Faculty of Medicine, Universitas Indonesia - Dr. Cipto Mangunkusumo National General Hospital, Jakarta, 10430, Indonesia., Idrus F; Division of Gastroenterology, Pancreatobiliary, and Digestive Endoscopy, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia - Dr. Cipto Mangunkusumo National General Hospital, Jakarta, 10430, Indonesia., Nursyirwan SA; Division of Gastroenterology, Pancreatobiliary, and Digestive Endoscopy, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia - Dr. Cipto Mangunkusumo National General Hospital, Jakarta, 10430, Indonesia., Muzellina VN; Division of Gastroenterology, Pancreatobiliary, and Digestive Endoscopy, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia - Dr. Cipto Mangunkusumo National General Hospital, Jakarta, 10430, Indonesia., Pribadi RR; Division of Gastroenterology, Pancreatobiliary, and Digestive Endoscopy, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia - Dr. Cipto Mangunkusumo National General Hospital, Jakarta, 10430, Indonesia., Utari AP; Division of Gastroenterology, Pancreatobiliary, and Digestive Endoscopy, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia - Dr. Cipto Mangunkusumo National General Hospital, Jakarta, 10430, Indonesia., Maulahela H; Division of Gastroenterology, Pancreatobiliary, and Digestive Endoscopy, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia - Dr. Cipto Mangunkusumo National General Hospital, Jakarta, 10430, Indonesia., Syam AF; Division of Gastroenterology, Pancreatobiliary, and Digestive Endoscopy, Department of Internal Medicine, Faculty of Medicine, Universitas Indonesia - Dr. Cipto Mangunkusumo National General Hospital, Jakarta, 10430, Indonesia.
Jazyk:	angličtina
Zdroj:	F1000Research [F1000Res] 2022 Apr 20; Vol. 11, pp. 443. Date of Electronic Publication: 2022 Apr 20 (Print Publication: 2022).
DOI:	10.12688/f1000research.109136.2
Abstrakt:	Background: Colorectal cancer (CRC) is one of the most commonly diagnosed cancers worldwide and genetic mutation plays a vital role in CRC development. A previous study has suggested that genetic alterations among Indonesian patients with CRC might differ from those known in developed countries. This study aimed to describe the genomic profiles of Indonesian patients with CRC. Methods: A total of 13 patients were recruited for this study from May to July 2019. Tissue samples were collected, and genomic DNA was extracted from the samples. AmpliSeq for Illumina Cancer HotSpot Panel v2 Next-generation sequencing was used for DNA sequencing and a genome analysis toolkit was used for local realignment around the discovered variants. Results: A total of 45 genes comprising 391 single nucleotide variants (SNVs) with a depth >10 were observed. The genes with the most variants were STK11, SMAD4, EGFR, and ERBB4 and the genes with the most non-synonymous variants were SMAD4, TP53, FGFR3, CDKN2A, and STK11. Genes and SNVs in at least 90% of all samples consisted of 43 genes comprising 286 variants. Genes with the most non-synonymous SNVs were EGFR, SMO, FGFR3, TP53, STK11, CDKN2A. Genes related to the chromosomal instability pathway, such as TP53, SMAD4, KRAS, and APC, are also found in the analysis. Conclusions: Our findings showed that all patients with CRC in this study had genetic mutations in the chromosomal instability pathway. Analysis of genetic mutation of Indonesian patients with CRC might be crucial for advanced targeted therapy and for better clinical outcomes. Competing Interests: No competing interests were disclosed. (Copyright: © 2023 Abdullah M et al.)
Databáze:	MEDLINE
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