Homologous recombination deficiency (HRD) testing landscape: clinical applications and technical validation for routine diagnostics.

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Tác giả: Margaux Betz, Julie Dardare, Pauline Gilson, Alexandre Harlé, Marie Husson, Jean-Louis Merlin, Cassandra Michel, Andréa Witz

Ngôn ngữ: eng

Ký hiệu phân loại:

Thông tin xuất bản: England : Biomarker research , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 537621

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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