KRAS和NRAS突变在转移性结直肠癌中的评估:土耳其一项为期8年的10754例患者研究

IF 6.6 2区 医学 Q1 Biochemistry, Genetics and Molecular Biology
Gozde Kavgaci, Izzet Akiva, Yavuz Hakan Ozon, Hakan Berkil, Huseyin Karadayi, Omer Dizdar, Suayib Yalcin
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引用次数: 0

摘要

本研究旨在评估KRAS和NRAS突变在八年期间,以提供转移性结直肠癌(mCRC)在土耳其患者的遗传景观的全面了解。2015年1月至2023年6月,从土耳其多个中心收集了10754例mCRC患者的肿瘤组织样本,所有遗传分析都在一个设施中进行。利用巢式PCR和多重微序列技术分析KRAS和NRAS基因密码子12、13、59、61、117和146的突变。在10681例患者的结结性结果中,46.6%(4982例)存在KRAS突变,53.4%(5699例)为野生型。最常见的KRAS突变是G12D(30.3%)、G12V(20.1%)、G13D(18.4%)和G12C(7.0%)。5699例KRAS野生型患者中,有480例(8.5%)存在NRAS突变,其中91.5%为NRAS野生型。最常见的NRAS突变是Q61K(19.7%)、G12D(19.1%)和G12V(12%)。本研究提供了土耳其mCRC患者KRAS和NRAS突变谱的大规模真实数据集,为了解该人群中mCRC的遗传特征做出了重大贡献。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluation of KRAS and NRAS mutations in metastatic colorectal cancer: an 8-year study of 10 754 patients in Turkey.

This study aimed to evaluate KRAS and NRAS mutations over an eight-year period to provide a comprehensive understanding of the genetic landscape of metastatic colorectal cancer (mCRC) in Turkish patients. Tumor tissue samples were collected from 10 754 patients with mCRC between January 2015 and June 2023 from multiple centers across Turkey, and all genetic analyses were performed at a single facility. DNA was analyzed for mutations in codons 12, 13, 59, 61, 117, and 146 of the KRAS and NRAS genes using nested PCR and multiplex minisequencing techniques. Among the conclusive results from 10 681 patients, 46.6% (4982) had KRAS mutations, and 53.4% (5699) were wild-type. The most common KRAS mutations were G12D (30.3%), G12V (20.1%), G13D (18.4%), and G12C (7.0%). Results from the 5699 KRAS wild-type patients revealed that 480 (8.5%) had NRAS mutations, while 91.5% were NRAS wild-type. The most frequent NRAS mutations were Q61K (19.7%), G12D (19.1%), and G12V (12%). This study provides a large-scale, real-world dataset of KRAS and NRAS mutation profiles in Turkish mCRC patients, contributing significantly to the understanding of the genetic characteristics of mCRC in this population.

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来源期刊
Molecular Oncology
Molecular Oncology Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
11.80
自引率
1.50%
发文量
203
审稿时长
10 weeks
期刊介绍: Molecular Oncology highlights new discoveries, approaches, and technical developments, in basic, clinical and discovery-driven translational cancer research. It publishes research articles, reviews (by invitation only), and timely science policy articles. The journal is now fully Open Access with all articles published over the past 10 years freely available.
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