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使用综合基因组检测方法对沙特阿拉伯人群结直肠癌的基因组特征分析

The Genomic Landscape of Colorectal Cancer in the Saudi Arabian Population Using a Comprehensive Genomic Panel.

作者信息

Alsolme Ebtehal, Alqahtani Saleh, Fageeh Musa, Barakeh Duna, Sharma Nitesh K, Mangul Serghei, Robinson Heather A, Fathaddin Amany, Hauser Charlotte A E, Abedalthagafi Malak

机构信息

Genomic Research Department, King Fahad Medical City, Riyadh 12231, Saudi Arabia.

Royal Clinic and Hepatology Department, King Faisal Specialist Hospital and Research Center, Riyadh 11564, Saudi Arabia.

出版信息

Diagnostics (Basel). 2023 Sep 19;13(18):2993. doi: 10.3390/diagnostics13182993.

Abstract

PURPOSE

Next-generation sequencing (NGS) technology detects specific mutations that can provide treatment opportunities for colorectal cancer (CRC) patients.

PATIENTS AND METHODS

We analyzed the mutation frequencies of common actionable genes and their association with clinicopathological characteristics and oncologic outcomes using targeted NGS in 107 Saudi Arabian patients without a family history of CRC.

RESULTS

Approximately 98% of patients had genetic alterations. Frequent mutations were observed in (79%), (78%), (76%), (76%), (74%), and (73%). The gene was not included in the panel. Statistical analysis using the Cox proportional hazards model revealed an unusual positive association between poorly differentiated tumors and survival rates ( = 0.025). Although no significant univariate associations between specific mutations or overall mutation rate and overall survival were found, our preliminary analysis of the molecular markers for CRC in a predominantly Arab population can provide insights into the molecular pathways that play a significant role in the underlying disease progression.

CONCLUSIONS

These results may help optimize personalized therapy when drugs specific to a patient's mutation profile have already been developed.

摘要

目的

下一代测序(NGS)技术可检测特定突变,为结直肠癌(CRC)患者提供治疗机会。

患者与方法

我们对107名无CRC家族史的沙特阿拉伯患者采用靶向NGS分析了常见可操作基因的突变频率及其与临床病理特征和肿瘤学结局的关联。

结果

约98%的患者存在基因改变。在(79%)、(78%)、(76%)、(76%)、(74%)和(73%)中观察到频繁突变。该基因未包含在检测组中。使用Cox比例风险模型进行的统计分析显示,低分化肿瘤与生存率之间存在异常的正相关(=0.025)。虽然未发现特定突变或总体突变率与总生存期之间存在显著的单变量关联,但我们在主要为阿拉伯人群中对CRC分子标志物的初步分析可为在潜在疾病进展中起重要作用的分子途径提供见解。

结论

当已经开发出针对患者突变谱的特定药物时,这些结果可能有助于优化个性化治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9281/10527739/70873514c350/diagnostics-13-02993-g001.jpg

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