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Genomic profiles of Indonesian colorectal cancer patients [version 2; peer review: 2 approved]

التفاصيل البيبلوغرافية
العنوان: Genomic profiles of Indonesian colorectal cancer patients [version 2; peer review: 2 approved]
المؤلفون: Saskia A. Nursyirwan, Firhat Idrus, Rabbinu R. Pribadi, Virly N. Muzellina, Sofy Meilany, Ninik Sukartini, Hidayat Trimarsanto, Safarina G. Malik, Hasan Maulahela, Murdani Abdullah, Amanda P. Utari, Ari F. Syam
المصدر: F1000Research, Vol 11 (2023)
بيانات النشر: F1000 Research Ltd, 2023.
سنة النشر: 2023
المجموعة: LCC:Medicine
LCC:Science
مصطلحات موضوعية: genetics, mutation, colorectal cancer, Indonesia, sequencing, eng, Medicine, Science
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2046-1402
Relation: https://f1000research.com/articles/11-443/v2; https://doaj.org/toc/2046-1402
DOI: 10.12688/f1000research.109136.2
URL الوصول: https://doaj.org/article/744871562bf040278312c89611611ab1
رقم الأكسشن: edsdoj.744871562bf040278312c89611611ab1
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20461402
DOI:10.12688/f1000research.109136.2