The frequency of NRAS mutation in stool samples of Iranian colorectal cancers compared to Finnish patients.

IF 1.5 4区医学 Q2 MEDICINE, GENERAL & INTERNAL

Journal of Research in Medical Sciences Pub Date : 2024-01-30 eCollection Date: 2024-01-01 DOI:10.4103/jrms.jrms_208_23

Farideh Saberi, Omar Youssef, Arto Kokkola, Mahsa Khodadoostan, Pauli Puolakkainen, Rasoul Salehi, Sakari Knuutila

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引用次数: 0

Abstract

Background: Stools from colorectal cancer patients are noninvasive samples that could be used to compare the frequency of hotspot mutations between two different ethnic cohorts.

Materials and methods: We collected stool samples from the Iranian cohort (52 patients and 49 controls) and the Finnish cohort (40 patients and 14 controls). Following stool DNA extraction, we used the AmpliSeq Colon and Lung Cancer panel to prepare DNA libraries before sequencing.

Results: The Iranian cohort exhibited 35 hotspot mutations in the BRAF, ERBB4, FBXW7, FGFR1, FGFR3, KRAS, MAP2K, MET, NRAS, PIK3C, SMAD4, and TP53 genes. In the Finnish cohort, 13 hotspot mutations were found in the AKT1, APC, KIT, KRAS, SMO, STK11, and TP53 genes. Mutations in NRAS and FGFR3 were observed only in the Iranian cohort, while APC mutations were exclusive for the Finnish cohort.

Conclusion: Genes involved in MAPK and PI3K-MAPK pathways showed a higher frequency of mutations in Iranian patients which may have therapeutic implications.

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与芬兰患者相比，伊朗结直肠癌患者粪便样本中 NRAS 突变的频率。

背景：结直肠癌患者的粪便是一种非侵入性样本，可用于比较两个不同种族队列中热点突变的频率：我们收集了伊朗队列（52 名患者和 49 名对照）和芬兰队列（40 名患者和 14 名对照）的粪便样本。在提取粪便 DNA 后，我们使用 AmpliSeq 结肠癌和肺癌面板在测序前制备 DNA 文库：结果：伊朗队列中的 BRAF、ERBB4、FBXW7、FGFR1、FGFR3、KRAS、MAP2K、MET、NRAS、PIK3C、SMAD4 和 TP53 基因出现了 35 个热点突变。在芬兰队列中，在AKT1、APC、KIT、KRAS、SMO、STK11和TP53基因中发现了13个热点突变。仅在伊朗队列中观察到 NRAS 和 FGFR3 基因突变，而 APC 基因突变仅出现在芬兰队列中：结论：在伊朗患者中，MAPK 和 PI3K-MAPK 通路相关基因的突变频率较高，这可能会对治疗产生影响。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Research in Medical Sciences MEDICINE, GENERAL & INTERNAL-

CiteScore

2.60

自引率

6.20%

发文量

审稿时长

3-6 weeks

期刊介绍： Journal of Research in Medical Sciences, a publication of Isfahan University of Medical Sciences, is a peer-reviewed online continuous journal with print on demand compilation of issues published. The journal’s full text is available online at http://www.jmsjournal.net. The journal allows free access (Open Access) to its contents and permits authors to self-archive final accepted version of the articles on any OAI-compliant institutional / subject-based repository.