Hollis Robert L, Churchman Michael, Gourley Charlie
Nicola Murray Centre for Ovarian Cancer Research, Edinburgh Cancer Research UK Centre, MRC IGMM, Western General Hospital, University of Edinburgh, Edinburgh, UK.
Onco Targets Ther. 2017 May 11;10:2539-2551. doi: 10.2147/OTT.S102569. eCollection 2017.
Approximately a fifth of ovarian carcinoma (OC) is associated with inherited germline mutations, most commonly in the DNA repair genes or (). - and -associated OCs have historically been described as a single subgroup of OC that displays a distinct set of characteristics termed the "BRCAness" phenotype. The hallmarks of this phenotype are superior clinical outcome and hypersensitivity to platinum-based chemotherapy and poly-(ADP-ribose) polymerase (PARP) inhibitors. However, growing evidence suggests that - and -associated OCs display distinct characteristics, most notably in long-term patient survival. Furthermore, recent data indicate that the site of mutation is important with regard to platinum and PARP inhibitor sensitivity. Here, we summarize the body of research describing the BRCAness phenotype and highlight the differential implications of different mutations with regard to clinicopathologic features, therapy sensitivity and clinical outcome in OC.
大约五分之一的卵巢癌（OC）与遗传性种系突变相关，最常见于DNA修复基因或（）。历史上，与BRCA1和BRCA2相关的OC被描述为OC的一个单一亚组，其表现出一组独特的特征，称为“BRCA样”表型。该表型的标志是临床结果优越以及对铂类化疗和聚（ADP-核糖）聚合酶（PARP）抑制剂高度敏感。然而，越来越多的证据表明，与BRCA1和BRCA2相关的OC表现出不同的特征，最明显的是在患者长期生存方面。此外，最近的数据表明，BRCA突变位点对于铂和PARP抑制剂敏感性很重要。在此，我们总结了描述BRCA样表型的研究主体，并强调了不同BRCA突变在OC的临床病理特征、治疗敏感性和临床结果方面的不同影响。
