同源重组缺陷(HRD)检测前景:常规诊断的临床应用和技术验证。

IF 9.5 2区 医学 Q1 MEDICINE, RESEARCH & EXPERIMENTAL
Andréa Witz, Julie Dardare, Margaux Betz, Cassandra Michel, Marie Husson, Pauline Gilson, Jean-Louis Merlin, Alexandre Harlé
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引用次数: 0

摘要

聚(adp -核糖)聚合酶抑制剂(PARPi)的使用彻底改变了brca突变癌症的治疗。鉴定有同源重组缺陷(HRD)的患者已被证明有助于预测PARPi的疗效。然而,随着时间的推移,获得HRD地位仍然是一项艰巨的任务。这导致从基因组疤痕中获得HRD状态变得过时,使得PARPi对这些患者无效。目前只有两种HRD测试获得fda批准,都是基于基因组疤痕检测和BRCA突变检测。然而,获得越来越可靠的HRD状态的新技术继续发展。由于需要更低的成本和更短的结果延迟时间,这些测试在临床实践中的应用是一个额外的挑战。在这篇综述中,我们描述了目前可用的HRD检测方法,包括评估HRD状态的方法和相应的测试,并讨论了这些测试的临床常规应用及其技术验证。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Homologous recombination deficiency (HRD) testing landscape: clinical applications and technical validation for routine diagnostics.

The use of poly(ADP-ribose) polymerase inhibitors (PARPi) revolutionized the treatment of BRCA-mutated cancers. Identifying patients exhibiting homologous recombination deficiency (HRD) has been proved useful to predict PARPi efficacy. However, obtaining HRD status remains an arduous task due to its evolution over the time. This causes HRD status to become obsolete when obtained from genomic scars, rendering PARPi ineffective for these patients. Only two HRD tests are currently FDA-approved, both based on genomic scars detection and BRCA mutations testing. Nevertheless, new technologies for obtaining an increasingly reliable HRD status continue to evolve. Application of these tests in clinical practice is an additional challenge due to the need for lower costs and shorter time to results delay.In this review, we describe the currently available methods for HRD testing, including the methodologies and corresponding tests for assessing HRD status, and discuss the clinical routine application of these tests and their technical validation.

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来源期刊
Biomarker Research
Biomarker Research Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
15.80
自引率
1.80%
发文量
80
审稿时长
10 weeks
期刊介绍: Biomarker Research, an open-access, peer-reviewed journal, covers all aspects of biomarker investigation. It seeks to publish original discoveries, novel concepts, commentaries, and reviews across various biomedical disciplines. The field of biomarker research has progressed significantly with the rise of personalized medicine and individual health. Biomarkers play a crucial role in drug discovery and development, as well as in disease diagnosis, treatment, prognosis, and prevention, particularly in the genome era.
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