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Gene-expression signatures to inform neoadjuvant treatment decision in HR+/HER2- breast cancer: Available evidence and clinical implications.激素受体阳性/人表皮生长因子受体 2 阴性乳腺癌新辅助治疗决策中基因表达谱的应用:现有证据和临床意义。
Cancer Treat Rev. 2022 Jan;102:102323. doi: 10.1016/j.ctrv.2021.102323. Epub 2021 Dec 3.
3
Molecular Testing in Breast Cancer: Current Status and Future Directions.乳腺癌的分子检测:现状与未来方向。
J Mol Diagn. 2021 Nov;23(11):1422-1432. doi: 10.1016/j.jmoldx.2021.07.026. Epub 2021 Aug 25.
4
Development and Validation of a Simulation Model-Based Clinical Decision Tool: Identifying Patients Where 21-Gene Recurrence Score Testing May Change Decisions.基于模拟模型的临床决策工具的开发与验证:识别可能改变决策的 21 基因复发评分检测患者。
J Clin Oncol. 2021 Sep 10;39(26):2893-2902. doi: 10.1200/JCO.21.00651. Epub 2021 Jul 12.
5
Clinical utility of the 21-gene assay in predicting response to neoadjuvant endocrine therapy in breast cancer: A systematic review and meta-analysis.21 基因检测在预测乳腺癌新辅助内分泌治疗反应中的临床效用:系统评价和荟萃分析。
Breast. 2021 Aug;58:113-120. doi: 10.1016/j.breast.2021.04.010. Epub 2021 May 12.
6
Chemotherapy de-escalation using an F-FDG-PET-based pathological response-adapted strategy in patients with HER2-positive early breast cancer (PHERGain): a multicentre, randomised, open-label, non-comparative, phase 2 trial.基于 F-FDG-PET 的病理缓解适应性策略进行化疗降阶梯治疗 HER2 阳性早期乳腺癌患者(PHERGain):一项多中心、随机、开放标签、非对照、Ⅱ期临床试验。
Lancet Oncol. 2021 Jun;22(6):858-871. doi: 10.1016/S1470-2045(21)00122-4. Epub 2021 May 18.
7
PAM50- and immunohistochemistry-based subtypes of breast cancer and their relationship with breast cancer mortality in a population-based study.基于 PAM50 和免疫组织化学的乳腺癌亚型及其与基于人群研究的乳腺癌死亡率的关系。
Breast Cancer. 2021 Nov;28(6):1235-1242. doi: 10.1007/s12282-021-01261-w. Epub 2021 May 18.
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70-gene signature as an aid for treatment decisions in early breast cancer: updated results of the phase 3 randomised MINDACT trial with an exploratory analysis by age.70 基因特征作为早期乳腺癌治疗决策的辅助手段:MINDACT 三期随机试验的更新结果,附有按年龄进行的探索性分析。
Lancet Oncol. 2021 Apr;22(4):476-488. doi: 10.1016/S1470-2045(21)00007-3. Epub 2021 Mar 12.
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Genomic Assays in Node Positive Breast Cancer Patients: A Review.淋巴结阳性乳腺癌患者的基因组检测:综述
Front Oncol. 2021 Feb 16;10:609100. doi: 10.3389/fonc.2020.609100. eCollection 2020.

基因组分析在早期乳腺癌的临床研究与最新应用。

The Clinical Research and Latest Application of Genomic Assays in Early-Stage Breast Cancer.

机构信息

Zhejiang Chinese Medical University, Hangzhou, Zhejiang, China.

The Cancer Hospital of the University of Chinese Academy of Sciences (Zhejiang Cancer Hospital), Institute of Basic Medicine and Cancer (IBMC), Chinese Academy of Sciences, Hangzhou, Zhejiang, China.

出版信息

Technol Cancer Res Treat. 2022 Jan-Dec;21:15330338221117402. doi: 10.1177/15330338221117402.

DOI:10.1177/15330338221117402
PMID:36976899
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9486269/
Abstract

Breast cancer is a kind of malignant tumor that seriously endangers women's life and health. Once diagnosed, most patients will receive a combination of treatments to achieve a cure. However, breast cancer is a heterogeneous disease. Even with the same clinical stage and pathological features, its response to treatment and postoperative recurrence risk may still be completely different. With the advent of genomic assay, some patients with early-stage breast cancer who originally needed treatment can still achieve long-term disease-free survival without adjuvant chemotherapy, so as to achieve personalized and accurate treatment mode to a certain extent. In this paper, we reviewed the 5 most widely used and studied genomic panel technologies in breast cancer, namely , , , and , according to accessibility and availability. Based on the results of the completed or ongoing clinical studies, we summarized the origin, applicable population, and clinical efficacy of each detection method, and discussed the potential development prospect of detection technology in the future.

摘要

乳腺癌是一种严重危害妇女生命健康的恶性肿瘤。一旦确诊,大多数患者将接受多种治疗方法的联合治疗,以实现治愈。然而,乳腺癌是一种异质性疾病。即使具有相同的临床分期和病理特征,其对治疗的反应和术后复发风险仍可能完全不同。随着基因组检测技术的出现,一些原本需要治疗的早期乳腺癌患者仍然可以通过不接受辅助化疗而实现长期无病生存,从而在一定程度上实现了个性化和精准治疗模式。本文根据可及性和可用性,综述了乳腺癌中最广泛使用和研究的 5 种基因组panel 技术,即 、 、 、 、 。基于已完成或正在进行的临床研究结果,总结了每种检测方法的起源、适用人群和临床疗效,并讨论了检测技术未来的潜在发展前景。