National Heart and Lung Institute, Faculty of Medicine, Imperial College, London, UK.
Department of Medical Oncology, Hammersmith Hospital, London, UK.
Sci Rep. 2020 Feb 25;10(1):3390. doi: 10.1038/s41598-020-60149-5.
Although guidelines recommend BRCA testing for all women with non-mucinous epithelial ovarian cancer, there is significant variability in access to testing across the UK. A germline BRCA mutation (BRCAm) in ovarian cancer patients provides prognostic and predictive information and influences clinical management, such as the use of PARP inhibitors, which have demonstrated a progression-free survival benefit in the BRCAm cohort. Additionally, the finding of a BRCAm has significant implications for patients and their families in terms of cancer risk and prevention. We studied the impact of a newly-formed, oncologist-led 'mainstreaming' germline BRCA testing pathway in 255 ovarian cancer patients at Imperial College NHS Trust. Prior to the establishment of 'mainstreaming', uptake of germline BRCA testing was 14% with a mean turnaround time of 148.2 calendar days. The 'mainstreaming' approach led to a 95% uptake of germline BRCA testing and a mean turnaround time of 20.6 days. Thirty-four (13.33%) BRCAm patients were identified. At the time of data collection nine BRCAm patients had received a PARP inhibitor off-trial, three had entered a PARP inhibitor trial and 5 were receiving platinum-based chemotherapy with a plan to receive PARP inhibitor maintenance. This study provides further evidence of the impact of oncologist-led 'mainstreaming' programs.
虽然指南建议对所有非黏液上皮性卵巢癌女性进行 BRCA 检测，但英国各地的检测可及性存在显著差异。卵巢癌患者中的种系 BRCA 突变（BRCAm）提供了预后和预测信息，并影响了临床管理，例如 PARP 抑制剂的使用，其在 BRCAm 队列中显示出无进展生存期获益。此外，BRCAm 的发现对患者及其家属在癌症风险和预防方面具有重要意义。我们研究了在帝国理工学院 NHS 信托基金的 255 名卵巢癌患者中，新成立的、由肿瘤学家主导的“主流”种系 BRCA 检测途径的影响。在建立“主流”之前，种系 BRCA 检测的吸收率为 14%，平均周转时间为 148.2 个日历日。“主流”方法导致种系 BRCA 检测吸收率达到 95%，平均周转时间为 20.6 天。确定了 34 名（13.33%）BRCAm 患者。在数据收集时，9 名 BRCAm 患者接受了 PARP 抑制剂的试验外治疗，3 名患者进入了 PARP 抑制剂试验，5 名患者正在接受铂类化疗，并计划接受 PARP 抑制剂维持治疗。这项研究进一步证明了肿瘤学家主导的“主流”计划的影响。
