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与芬兰患者相比，伊朗结直肠癌粪便样本中NRAS突变的频率。

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

作者信息

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

机构信息

Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Department of Pathology, University of Helsinki, Helsinki, Finland, Europe.

出版信息

J Res Med Sci. 2024 Jan 30;29:4. doi: 10.4103/jrms.jrms_208_23. eCollection 2024.

DOI:10.4103/jrms.jrms_208_23
PMID:38524743
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10956560/
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 , , , , , , , , , , , and genes. In the Finnish cohort, 13 hotspot mutations were found in the , , , , , , and genes. Mutations in and were observed only in the Iranian cohort, while 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.

摘要

背景

结直肠癌患者的粪便属于非侵入性样本，可用于比较两个不同种族队列中热点突变的频率。

材料与方法

我们收集了伊朗队列（52例患者和49例对照）和芬兰队列（40例患者和14例对照）的粪便样本。在提取粪便DNA后，我们使用AmpliSeq结肠癌和肺癌检测板在测序前制备DNA文库。

结果

伊朗队列在、、、、、、、、、、和基因中表现出35个热点突变。在芬兰队列中，在、、、、、和基因中发现了13个热点突变。和基因的突变仅在伊朗队列中观察到，而突变则是芬兰队列所特有的。

结论

参与MAPK和PI3K-MAPK途径的基因在伊朗患者中显示出较高的突变频率，这可能具有治疗意义。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ba6/10956560/504e89587c71/JRMS-29-4-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ba6/10956560/504e89587c71/JRMS-29-4-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2ba6/10956560/504e89587c71/JRMS-29-4-g001.jpg

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Comparison of Fresh Frozen Tissue With Formalin-Fixed Paraffin-Embedded Tissue for Mutation Analysis Using a Multi-Gene Panel in Patients With Colorectal Cancer.
新鲜冷冻组织与福尔马林固定石蜡包埋组织用于结直肠癌患者多基因检测突变分析的比较
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World J Gastroenterol. 2017 Dec 21;23(47):8291-8299. doi: 10.3748/wjg.v23.i47.8291.
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