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评估同源重组修复缺陷(HRD)的基因组检测在早期和转移性乳腺癌治疗决策中的临床应用价值

Clinical Utility of Genomic Tests Evaluating Homologous Recombination Repair Deficiency (HRD) for Treatment Decisions in Early and Metastatic Breast Cancer.

作者信息

Galland Loïck, Roussot Nicolas, Desmoulins Isabelle, Mayeur Didier, Kaderbhai Courèche, Ilie Silvia, Hennequin Audrey, Reda Manon, Albuisson Juliette, Arnould Laurent, Boidot Romain, Truntzer Caroline, Ghiringhelli François, Ladoire Sylvain

机构信息

Department of Medical Oncology, Georges-François Leclerc Center, 21000 Dijon, France.

Platform of Transfer in Biological Oncology, Georges-François Leclerc Cancer Center, 21000 Dijon, France.

出版信息

Cancers (Basel). 2023 Feb 18;15(4):1299. doi: 10.3390/cancers15041299.

Abstract

Breast cancer is the most frequently occurring cancer worldwide. With its increasing incidence, it is a major public health problem, with many therapeutic challenges such as precision medicine for personalized treatment. Thanks to next-generation sequencing (NGS), progress in biomedical technologies, and the use of bioinformatics, it is now possible to identify specific molecular alterations in tumor cells-such as homologous recombination deficiencies (HRD)-enabling us to consider using DNA-damaging agents such as platinum salts or PARP inhibitors. Different approaches currently exist to analyze impairment of the homologous recombination pathway, e.g., the search for specific mutations in homologous recombination repair (HRR) genes, such as /; the use of genomic scars or mutational signatures; or the development of functional tests. Nevertheless, the role and value of these different tests in breast cancer treatment decisions remains to be clarified. In this review, we summarize current knowledge on the clinical utility of genomic tests, evaluating HRR deficiency for treatment decisions in early and metastatic breast cancer.

摘要

乳腺癌是全球最常见的癌症。随着其发病率的上升,它成为了一个重大的公共卫生问题,面临着许多治疗挑战,如精准医学的个性化治疗。得益于下一代测序(NGS)、生物医学技术的进步以及生物信息学的应用,现在能够识别肿瘤细胞中的特定分子改变,如同源重组缺陷(HRD),这使我们能够考虑使用铂盐或聚腺苷二磷酸核糖聚合酶(PARP)抑制剂等DNA损伤剂。目前存在不同的方法来分析同源重组途径的损伤,例如,寻找同源重组修复(HRR)基因中的特定突变,如;使用基因组疤痕或突变特征;或开展功能测试。然而,这些不同测试在乳腺癌治疗决策中的作用和价值仍有待阐明。在本综述中,我们总结了关于基因组测试临床应用的当前知识,评估HRR缺陷在早期和转移性乳腺癌治疗决策中的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c01e/9954086/1ca578b885ad/cancers-15-01299-g001.jpg

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