Abstract：
BACKGROUND: Homologous Recombination Deficiency (HRD) status predicts response to treatment with poly(ADP-ribose) polymerase inhibitors in Ovarian Cancer (OC) patients. The Myriad myChoiceCDx Assay is approved by Food and Drug Agency for the HRD assessment. Here we compared the HRD status obtained by three commercial panels with the results from Myriad reference test.
METHODS: The HRD analysis was performed on DNA from formalin-fixed and paraffin-embedded tumor samples of 100 untreated OC patients for which Myriad assay results were available, using TruSight Oncology 500 HRD assay (Illumina), Oncomine Comprehensive Assay Plus (Thermo Fisher Scientific) and SOPHiA DDM HRD solution panel (SOPHiA Genetics).
RESULTS: A good overall concordance with the reference method was demonstrated at three different levels: BRCA mutational status (from 94.4 % to 97.7 %), the genomic instability value (from 88.2 % to 95.3 %) and for the HRD status (from 90.4 % to 97.6 %). Moreover, a trend in favour of HRD positive patients for response rate, progression-free survival and overall survival similar to Myriad was observed for all three tests.
CONCLUSIONS: Our data suggest the feasibility of commercial testing for assessing HRD status, with a good concordance with the reference method and association with clinical outcome.
METHODS: The HRD analysis was performed on DNA from formalin-fixed and paraffin-embedded tumor samples of 100 untreated OC patients for which Myriad assay results were available, using TruSight Oncology 500 HRD assay (Illumina), Oncomine Comprehensive Assay Plus (Thermo Fisher Scientific) and SOPHiA DDM HRD solution panel (SOPHiA Genetics).
RESULTS: A good overall concordance with the reference method was demonstrated at three different levels: BRCA mutational status (from 94.4 % to 97.7 %), the genomic instability value (from 88.2 % to 95.3 %) and for the HRD status (from 90.4 % to 97.6 %). Moreover, a trend in favour of HRD positive patients for response rate, progression-free survival and overall survival similar to Myriad was observed for all three tests.
CONCLUSIONS: Our data suggest the feasibility of commercial testing for assessing HRD status, with a good concordance with the reference method and association with clinical outcome.
摘要：
背景：同源重组缺陷（HRD）状态可预测卵巢癌（OC）患者对聚（ADP-核糖）聚合酶抑制剂治疗的反应。MyriadmyChoiceCDx测定法已被食品和药物管理局批准用于HRD评估。在这里，我们将三个商业小组获得的HRD状态与Myriad参考测试的结果进行了比较。
方法：对100名未经治疗的OC患者的福尔马林固定和石蜡包埋的肿瘤样本的DNA进行HRD分析，这些样本有大量的检测结果，使用TruSight肿瘤学500HRD测定(Illumina)，Oncomine综合测定加（ThermoFisherScientific）和SOPHiADDMHRD溶液面板（SOPHiA遗传学）。
结果：在三个不同的水平上证明了与参考方法的良好总体一致性：BRCA突变状态（从94.4％到97.7％），基因组不稳定性值(从88.2%到95.3%)和HRD状态(从90.4%到97.6%)。此外，有利于HRD阳性患者的反应率的趋势，3项试验均观察到与Myriad相似的无进展生存期和总生存期.
结论：我们的数据表明商业测试用于评估HRD状态的可行性，与参考方法具有良好的一致性，并与临床结果相关联。
方法：对100名未经治疗的OC患者的福尔马林固定和石蜡包埋的肿瘤样本的DNA进行HRD分析，这些样本有大量的检测结果，使用TruSight肿瘤学500HRD测定(Illumina)，Oncomine综合测定加（ThermoFisherScientific）和SOPHiADDMHRD溶液面板（SOPHiA遗传学）。
结果：在三个不同的水平上证明了与参考方法的良好总体一致性：BRCA突变状态（从94.4％到97.7％），基因组不稳定性值(从88.2%到95.3%)和HRD状态(从90.4%到97.6%)。此外，有利于HRD阳性患者的反应率的趋势，3项试验均观察到与Myriad相似的无进展生存期和总生存期.
结论：我们的数据表明商业测试用于评估HRD状态的可行性，与参考方法具有良好的一致性，并与临床结果相关联。
