George Angela
The Royal Marsden NHS Foundation Trust, Fulham Road, London SW3 6JJ, UK.
Br J Cancer. 2015 Dec 15;113 Suppl 1(Suppl 1):S17-21. doi: 10.1038/bjc.2015.396.
Despite the increasing clinical importance of germline BRCA mutation status in managing women with ovarian cancer, few patients are currently being tested. The traditional means of selecting patients for BRCA mutation testing using restrictive criteria will miss many women with a mutation. To expand access to testing and streamline the testing process, several centres in the UK have been developing new models for BRCA testing. Trials with these integrated models involving closer collaborations between genetics and oncology services are now under way. In addition to testing for BRCA mutations, there is also increasing interest in testing for other genes associated with a predisposition to ovarian cancer. Advances in next-generation sequencing technology have resulted in the development of comprehensive genetic testing panels for use in the research and diagnostic settings. Interest is also increasing in expanding testing for somatic mutations in ovarian cancer, particularly for genes such as BRCA1 and BRCA2, whereby mutations may allow more patients to benefit from targeted agents, including poly(ADP-ribose) polymerase inhibitors. In this review, the issues of who should be offered testing, how testing could be delivered, when testing should occur and the technology and costs associated with genetic testing are addressed.
尽管种系BRCA突变状态在卵巢癌女性患者管理中的临床重要性日益增加,但目前接受检测的患者却很少。使用严格标准选择患者进行BRCA突变检测的传统方法会遗漏许多携带突变的女性。为了扩大检测机会并简化检测流程,英国的几个中心一直在开发BRCA检测的新模式。涉及遗传学和肿瘤学服务更紧密合作的这些综合模型的试验正在进行中。除了检测BRCA突变外,对与卵巢癌易感性相关的其他基因进行检测的兴趣也在增加。新一代测序技术的进步导致了用于研究和诊断的综合基因检测面板的开发。对扩大卵巢癌体细胞突变检测的兴趣也在增加,特别是对于BRCA1和BRCA2等基因,突变可能使更多患者受益于靶向药物,包括聚(ADP-核糖)聚合酶抑制剂。在这篇综述中,讨论了应该为谁提供检测、如何进行检测、何时进行检测以及与基因检测相关的技术和成本等问题。