【佳学基因检测】选择卵巢癌患者进行生殖系 BRCA 突变检测：指南和系统文献回顾的结果

靶向药基因检测两万有必要吗—标准

与专家交流如何选择有效的靶向药物治疗知道《Adv Ther》在. 2016 Feb;33(2):129-50.发表了一篇题目为《选择卵巢癌患者进行生殖系 BRCA 突变检测：指南和系统文献回顾的结果》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Diana M Eccles, Judith Balmaña, Joe Clune, Birgit Ehlken, Annegret Gohlke, Ceri Hirst, Danielle Potter, Claudia Schroeder, Jerzy E Tyczynski, Encarnacion B Gomez Garcia等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物及精准治疗临床研究内容关键词：

肿瘤靶向治疗基因检测临床应用结果

简介： 卵巢癌 (OC) 发展的最重要风险因素之一是 BRCA1（乳腺癌基因 1）或 BRCA2 的基因突变。在这里，基因解码基因检测描述了以前和当前指南对 BRCA 检测实践的影响，并提供了关于哪些特征最能识别患有 OC 和潜在生殖系 BRCA 突变的患者的证据。基因解码基因检测的研究方法：对推荐基因检测的指南进行了搜索，以识别在BRCA 基因。此外，对 2003-2015 年发表的研究进行了系统文献检索，以评估未根据患者特征（个人病史、家族史和德系犹太人种族）选择的基于人群的 OC 患者的 BRCA 突变频率，并描述患者之间的关联BRCA 突变的特征。专门评估了对 BRCA1 和 BRCA2 突变的全基因筛查评估上皮性 OC 或侵袭性上皮性 OC 的研究。基因解码基因检测的研究结果：在 15 条建议对 OC 患者进行基因检测的指南中，只有 5 条不需要同时出现特定的患者或家庭特征.确定了 22 篇完整的出版物，利用一系列不同的完整突变检测基因解码基因检测的研究方法评估了 OC 女性的生殖系 BRCA 突变频率。 OC 患者的生殖系 BRCA 突变发生率为 5.8-24.8%。使用尚未更新的指南中推荐的标准，基因解码基因检测估计 OC 患者中存在的所有胚系 BRCA 突变中有 27.5% 可能会因为患者不符合适当的标准而被遗漏。基因解码基因检测的研究结论：随着 BRCA 突变靶向治疗的可用性，鉴定具有种系 BRCA 突变的 OC 患者具有潜在的治疗效果。对于已确定的基因携带者，允许癌症预防策略的预测性测试，包括双侧输卵管卵巢切除术，为确定此类基因携带者提供了更广泛的好处。更新指南将增加患者靶向治疗的机会并降低亲属的风险。

肿瘤发生与复发转移国际数据库描述：

Introduction: One of the most significant risk factors for the development of ovarian cancer (OC) is a genetic mutation in BRCA1 (breast cancer gene 1) or BRCA2. Here we describe the impact of previous and current guidance on BRCA testing practices and provide evidence about which characteristics best identify patients with OC and an underlying germline BRCA mutation.Methods: A search was conducted for guidelines recommending genetic testing to identify constitutional pathogenic mutations in the BRCA genes. In addition, a systematic literature search of studies published in 2003-2015 was performed to assess BRCA mutation frequency in population-based OC patients unselected for patient characteristics (personal history, family history, and Ashkenazi Jewish ethnicity) and to describe the association of patient characteristics with BRCA mutation. Exclusively, studies assessing epithelial OC or invasive epithelial OC with full-gene screening of both BRCA1 and BRCA2 mutations were evaluated.Results: Of 15 guidelines recommending genetic testing for OC patients, only 5 do not require co-occurrence of specific patient or family characteristics. Twenty-two full publications were identified that assessed germline BRCA mutation frequency in women with OC, utilizing a range of different full mutation detection methods. Germline BRCA mutation prevalence in patients with OC was 5.8-24.8%. Using criteria recommended in guidelines that are yet to be updated, we estimated that 27.5% of all germline BRCA mutations present in patients with OC may be missed because patients do not meet appropriate criteria.Conclusion: With the availability of BRCA mutation-targeted therapies, identification of patients with OC with germline BRCA mutations has potential therapeutic consequences. For identified gene carriers, predictive testing to allow cancer prevention strategies, including bilateral salpingo-oophorectomy, provides wider benefit to identifying such gene carriers. Updating guidelines will increase the opportunity for targeted treatment among patients and risk reduction in relatives.