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Abstract：
Germline/somatic BRCA-mutated ovarian carcinomas (OC) are associated to have better response with platinum-based chemotherapy and long-term prognosis than non-BRCA-associated OCs. In addition, these mutations are predictive factors to response to Poly(ADP-ribose) polymerase (PARP) inhibitors. Different positioning papers have addressed the clinical recommendations for BRCA testing in OC. This consensus guide represents a collection of technical recommendations to address the detection of BRCA1/2 mutations in the molecular diagnostic testing strategy for OC. Under the coordination of Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH), these recommendations have been developed by pathologists and geneticists taking into account previously published recommendations and their experience in the molecular characterization of these genes. Since the implementation of BRCA testing as a predictive factor can initiate the workflow by testing germline mutations in the blood or by testing both germline and somatic mutations in tumor tissue, distinctive features of both strategies are discussed. Additionally, the recommendations included in this paper provide some references, quality parameters, and genomic tools aimed to standardize and facilitate the clinical genomic diagnosis of OC.
摘要：
种系/体细胞BRCA突变的卵巢癌（OC）与非BRCA相关的OC相比，基于铂的化疗具有更好的反应和长期预后。此外,这些突变是响应Poly(ADP-核糖)聚合酶(PARP)抑制剂的预测因素.不同的定位论文已经解决了OC中BRCA测试的临床建议。该共识指南代表了一系列技术建议，以解决OC分子诊断测试策略中BRCA1/2突变的检测。在西班牙病理学会（SEAP-IAP）和西班牙人类遗传学会（AEGH）的协调下，这些建议是由病理学家和遗传学家在考虑了以前发表的建议以及他们在这些基因的分子鉴定方面的经验后提出的.由于BRCA测试作为预测因素的实施可以通过测试血液中的种系突变或通过测试肿瘤组织中的种系和体细胞突变来启动工作流程，讨论了这两种策略的显著特点。此外,本文所包含的建议提供了一些参考，质量参数,和基因组工具旨在标准化和促进OC的临床基因组诊断。
