Homologous recombination deficiency (HRD) is a key biomarker associated with increased sensitivity to PARP inhibitors (PARPi) in advanced epithelial ovarian cancer. Accurate identification of HRD status is essential for selecting patients most likely to benefit from these therapies. Current diagnostic approaches combine sequencing to detect mutations in homologous recombination repair genes—particularly BRCA1 and BRCA2—with genome-wide analysis of structural genomic alterations indicative of HRD. This review briefly outlines the biological basis of HRD and its clinical significance and then focuses on currently available assays for HRD assessment. We compare their molecular strategies, including the use of targeted gene panels and genomic instability metrics such as loss of heterozygosity, telomeric allelic imbalance, and large-scale state transitions. The review also highlights the strengths and limitations of each platform and discusses their role in guiding clinical decision-making. Challenges related to dynamic tumor evolution and the interpretation of HRD status in recurrent disease settings are also addressed.
同源重组缺陷（HRD）是晚期上皮性卵巢癌中对PARP抑制剂敏感性增强的关键生物标志物。准确识别HRD状态对于筛选最可能从这些治疗中获益的患者至关重要。目前的诊断方法结合了同源重组修复基因（特别是BRCA1和BRCA2）突变测序检测，以及对指示HRD的全基因组结构变异分析。本综述简要概述了HRD的生物学基础及其临床意义，重点讨论了当前可用的HRD评估检测方法。我们比较了不同检测平台的分子策略，包括靶向基因组合检测和基因组不稳定性指标（如杂合性缺失、端粒等位基因失衡和大规模状态转换）的应用。同时分析了各平台的优势与局限，并探讨其在指导临床决策中的作用。此外，还针对肿瘤动态演化及复发性疾病中HRD状态解读所面临的挑战进行了讨论。
肿瘤(癌症)患者之家