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乳腺癌同源重组修复缺陷(HRD)的筛查和检测:当前全球全景概述。

Screening and Testing for Homologous Recombination Repair Deficiency (HRD) in Breast Cancer: an Overview of the Current Global Landscape.

机构信息

The Department of Surgery, RCSI University of Medicine and Health Sciences, Dublin, Ireland.

The Department of Surgery, Beaumont Hospital, Dublin, Ireland.

出版信息

Curr Oncol Rep. 2024 Aug;26(8):890-903. doi: 10.1007/s11912-024-01560-3. Epub 2024 Jun 1.

Abstract

PURPOSE OF REVIEW

Homologous recombination repair deficiency (HRD) increases breast cancer susceptibility and influences both prophylactic and active management of breast cancer. This review evaluates HRD testing and the therapeutic implications of HRD in a global context.

RECENT FINDINGS

Ongoing research efforts have highlighted the importance of HRD beyond BRCA1/2 as a potential therapeutic target in breast cancer. However, despite the improved affordability of next-generation sequencing (NGS) and the discovery of PARP inhibitors, economic and geographical barriers in access to HRD testing and breast cancer screening do not allow all patients to benefit from the personalized treatment approach they provide. Advancements in HRD testing modalities and targeted therapeutics enable tailored breast cancer management. However, inequalities in access to testing and optimized treatments are contributing to widening health disparities globally.

摘要

目的综述

同源重组修复缺陷(HRD)增加了乳腺癌的易感性,并影响了乳腺癌的预防性和主动管理。本综述评估了 HRD 检测以及 HRD 在全球背景下的治疗意义。

最近的发现

正在进行的研究工作强调了 HRD 在 BRCA1/2 之外作为乳腺癌潜在治疗靶点的重要性。然而,尽管下一代测序(NGS)的成本降低和 PARP 抑制剂的发现,但在获得 HRD 检测和乳腺癌筛查方面的经济和地理障碍使得并非所有患者都能从个性化治疗方法中受益。HRD 检测模式和靶向治疗的进步使乳腺癌的管理更加个体化。然而,获得检测和优化治疗的不平等导致全球健康差距的扩大。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/477d/11300621/b6ec87de6fe9/11912_2024_1560_Fig1_HTML.jpg

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