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RE: Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition

机译:RE:卵巢癌通用肿瘤DNA BRCA1 / 2测试:PARPi治疗的预筛选和遗传易感性

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摘要

BRCA1/2 mutations play a predictive role in ovarian cancer risk evaluation. Moreover, patients are today being tested for mutations to select a tailored therapy because they could benefit from a treatment with PARP inhibitors (PARPis). Therefore, in ovarian carcinomas (OCs), mutation testing is an important step in planning the correct therapeutic strategy in association with chemotherapy and anti–vascular endothelial growth factor agents. We read with great interest the recent article in the Journal by Vos et al. ( ) that investigates the role of universal tumor DNA testing of all newly diagnosed OC patients as prescreen for PARPi treatment and cancer predisposition. With the approach described by the authors, hereditary as well as somatic aberrations affecting DNA could be quickly and correctly detected with tumor single-molecule molecular inversion, probe-based, next-generation sequence testing. The authors concluded that this test, as the first step in all newly diagnosed OC patients, could statistically significantly increase the identification rate of eligible patients for treatment with PARPis. Even if this result can contribute to modifying clinical practice, it is appropriate to make some observations.
机译:BRCA1 / 2突变在卵巢癌风险评估中起预测作用。此外,今天正在对患者进行突变测试以选择量身定制的治疗方法,因为他们可以从PARP抑制剂(PARPis)的治疗中受益。因此,在卵巢癌(OCs)中,突变测试是规划与化学疗法和抗血管内皮生长因子药物相关的正确治疗策略的重要步骤。我们非常感兴趣地阅读了Vos等人在《日刊》上发表的最新文章。 ()调查了所有新诊断的OC患者的通用肿瘤DNA测试在PARPi治疗和癌症易感性预筛查中的作用。使用作者描述的方法,可以通过肿瘤单分子分子倒置,基于探针的下一代序列测试快速而正确地检测到影响DNA的遗传和体细胞畸变。作者得出的结论是,作为所有新诊断出的OC患者的第一步,该测试可以从统计学上显着提高合格的PARPis患者的识别率。即使该结果可以有助于改进临床实践,也应进行一些观察。

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