奥拉帕尼布加替尼维持治疗可提高初诊、晚期、高级别卵巢癌伴同源重组修复缺陷女性的生存结局。本文报告自2021年4月至2022年4月期间，英格兰、威尔士和北爱尔兰国民健康服务体系（NHS）首次实施例行的同源重组修复缺陷测试的一年数据。我们使用Myriad myChoice伴侣诊断测试从初诊、FIGO III/IV高级别上皮卵巢癌、输卵管癌或原发性腹膜癌的女性患者的福尔马林固定、石蜡包埋肿瘤组织中提取DNA。同源重组修复缺陷肿瘤是指具有BRCA1/2突变和/或基因组不稳定性得分（GIS）≥42的肿瘤。测试由NHS基因组实验室网络协调完成。共对2829个肿瘤进行了myChoice检测。其中，2474个（87％）和2178个（77％）成功进行了BRCA1/2和GIS测试。所有完全和部分检测故障均由于肿瘤细胞数量和/或肿瘤DNA产量低。其中，385个肿瘤（16％）含有BRCA1/2突变，814个（37％）的GIS≥42。具有GIS≥42的肿瘤更可能是BRCA1/2野生型（n = 510），而不是BRCA1/2突变型（n = 304）。GIS的分布呈双峰分布，BRCA1/2突变型肿瘤的平均得分高于BRCA1/2野生型肿瘤（分别为61和33，χ2检验p <0.0001）。这是对FIGO III/IV高级别上皮卵巢癌、输卵管癌或原发性腹膜癌，初诊患者进行同源重组修复缺陷测试的最大实际评估研究。选择具有足够肿瘤含量和质量的肿瘤组织以减少检测故障的风险非常重要。在英格兰、威尔士和北爱尔兰全面实施测试，展现了中央集中式NHS资金、中心专业化和NHS基因组实验室网络的强大推动力。© IGCS and ESGO 2023. 禁止商业再使用。请参阅权利和权限。发表于BMJ。

Olaparib plus bevacizumab maintenance therapy improves survival outcomes in women with newly diagnosed, advanced, high-grade ovarian cancer with a deficiency in homologous recombination. We report data from the first year of routine homologous recombination deficiency testing in the National Health Service (NHS) in England, Wales, and Northern Ireland between April 2021 and April 2022.The Myriad myChoice companion diagnostic was used to test DNA extracted from formalin-fixed, paraffin-embedded tumor tissue in women with newly diagnosed International Federation of Gynecology and Obstetrics (FIGO) stage III/IV high-grade epithelial ovarian, fallopian tube, or primary peritoneal cancer. Tumors with homologous recombination deficiency were those with a BRCA1/2 mutation and/or a Genomic Instability Score (GIS) ≥42. Testing was coordinated by the NHS Genomic Laboratory Hub network.The myChoice assay was performed on 2829 tumors. Of these, 2474 (87%) and 2178 (77%) successfully underwent BRCA1/2 and GIS testing, respectively. All complete and partial assay failures occurred due to low tumor cellularity and/or low tumor DNA yield. 385 tumors (16%) contained a BRCA1/2 mutation and 814 (37%) had a GIS ≥42. Tumors with a GIS ≥42 were more likely to be BRCA1/2 wild-type (n=510) than BRCA1/2 mutant (n=304). The distribution of GIS was bimodal, with BRCA1/2 mutant tumors having a higher mean score than BRCA1/2 wild-type tumors (61 vs 33, respectively, χ2 test p<0.0001).This is the largest real-world evaluation of homologous recombination deficiency testing in newly diagnosed FIGO stage III/IV high-grade epithelial ovarian, fallopian tube, or primary peritoneal cancer. It is important to select tumor tissue with adequate tumor content and quality to reduce the risk of assay failure. The rapid uptake of testing across England, Wales, and Northern Ireland demonstrates the power of centralized NHS funding, center specialization, and the NHS Genomic Laboratory Hub network.© IGCS and ESGO 2023. No commercial re-use. See rights and permissions. Published by BMJ.