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乳腺癌患者外周血中的BRCA突变与微小RNA表达模式

BRCA Mutations and MicroRNA Expression Patterns in the Peripheral Blood of Breast Cancer Patients.

作者信息

Alavanda Ceren, Dirimtekin Esra, Mortoglou Maria, Arslan Ates Esra, Guney Ahmet Ilter, Uysal-Onganer Pinar

机构信息

Department of Medical Genetics, School of Medicine, Marmara University, 34854 Istanbul, Turkey.

Department of Medical Genetics, Van Research and Training Hospital, 10300 Van, Turkey.

出版信息

ACS Omega. 2024 Apr 3;9(15):17217-17228. doi: 10.1021/acsomega.3c10086. eCollection 2024 Apr 16.

Abstract

Breast cancer (BC) persists as the predominant malignancy globally, standing as the foremost cause of cancer-related mortality among women. Despite notable advancements in prevention and treatment, encompassing the incorporation of targeted immunotherapies, a continued imperative exists for the development of innovative methodologies. These methodologies would facilitate the identification of women at heightened risk, enhance the optimization of therapeutic approaches, and enable the vigilant monitoring of emergent treatment resistance. Circulating microRNAs (miRNAs), found either freely circulating in the bloodstream or encapsulated within extracellular vesicles, have exhibited substantial promise for diverse clinical applications. These applications range from diagnostic and prognostic assessments to predictive purposes. This study aimed to explore the potential associations between mutations and specific miRNAs (miR-21, miR-155, miR-126, and miR-200c) expression that are known to be dysregulated in BC patient samples. Our findings indicate a robust correlation between miRNA expression status and disease subtypes. We found a correlation between the expression status of miRNAs and distinct disease subtypes. Intriguingly, however, no significant associations were discerned between disease status, subtypes, or miRNA expression levels and the presence of mutations. To advance the validation of miRNAs as clinically relevant biomarkers, additional investigations within larger and meticulously selected patient cohorts are deemed imperative. These microRNA entities hold the potential to emerge as groundbreaking and readily accessible tools, poised for seamless integration into the landscape of clinical practice.

摘要

乳腺癌(BC)仍然是全球主要的恶性肿瘤,是女性癌症相关死亡的首要原因。尽管在预防和治疗方面取得了显著进展,包括纳入了靶向免疫疗法,但开发创新方法的需求仍然持续存在。这些方法将有助于识别高危女性,优化治疗方法,并密切监测新出现的治疗耐药性。循环微RNA(miRNA),无论是在血液中自由循环还是包裹在细胞外囊泡中,在多种临床应用中都显示出巨大的前景。这些应用范围从诊断和预后评估到预测目的。本研究旨在探讨已知在BC患者样本中失调的特定miRNA(miR-21、miR-155、miR-126和miR-200c)表达与 突变之间的潜在关联。我们的研究结果表明miRNA表达状态与疾病亚型之间存在密切相关性。我们发现miRNA的表达状态与不同的疾病亚型之间存在相关性。然而,有趣的是,在疾病状态、亚型或miRNA表达水平与 突变的存在之间未发现显著关联。为了推进将miRNA验证为临床相关生物标志物,在更大且精心挑选的患者队列中进行更多研究被认为是必不可少的。这些微RNA实体有可能成为开创性的、易于获取的工具,随时准备无缝融入临床实践领域。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6210/11025100/b1786e8d682b/ao3c10086_0001.jpg

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