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一项针对高级别非黏液性上皮性卵巢癌患者的通用基因检测倡议及其对癌症治疗的影响。

A universal genetic testing initiative for patients with high-grade, non-mucinous epithelial ovarian cancer and the implications for cancer treatment.

作者信息

Bednar Erica M, Oakley Holly D, Sun Charlotte C, Burke Catherine C, Munsell Mark F, Westin Shannon N, Lu Karen H

机构信息

The Department of Clinical Cancer Genetics, The University of Texas MD Anderson Cancer Center, 1155 Herman P. Pressler Dr. Houston, TX 77030, United States.

The Department of Gynecologic Oncology and Reproductive Medicine, The University of Texas MD Anderson Cancer Center, 1155 Herman P. Pressler Dr. Houston, TX 77030, United States.

出版信息

Gynecol Oncol. 2017 Aug;146(2):399-404. doi: 10.1016/j.ygyno.2017.05.037. Epub 2017 Jun 10.

Abstract

OBJECTIVE

Genetic counseling (GC) and germline genetic testing (GT) for BRCA1 and BRCA2 are considered standard of care for patients with high-grade, non-mucinous epithelial ovarian, fallopian tube, and primary peritoneal cancers (HGOC). We describe a universal genetic testing initiative to increase the rates of recommendation and acceptance of GC and GT to >80% for patients with HGOC at our institution.

METHODS

Data from a consecutive cohort of patients seen in our gynecologic oncology clinics between 9/1/2012 and 8/31/2015 for evaluation of HGOC were retrospectively analyzed. Data were abstracted from the tumor registry, medical records, and research databases. Descriptive statistics were used to evaluate patient characteristics and GC, GT, and PARP inhibitor use. Various clinic interventions were developed, influenced by the Plan-Do-Study-Act cycle method, which included physician-coordinated GT, integrated GC, and assisted GC referrals.

RESULTS

A cohort of 1636 patients presented to the gynecologic oncology clinics for evaluation of HGOC during our study period, and 1423 (87.0%) were recommended to have GC and GT. Of these, 1214 (85.3%) completed GT and 217 (17.9%) were found to have a BRCA1 or BRCA2 mutation. Among BRCA-positive patients, 167 had recurrent or progressive disease, and 56 of those received PARP inhibitor therapy.

CONCLUSIONS

The rates of GC and GT recommendation and completion among patients with HGOC at our institution exceeded 80% following the implementation of a universal genetic testing initiative. Universal genetic testing of patients with HGOC is one strategy to identify those who may benefit from PARP inhibitor therapy.

摘要

目的

对于高级别、非黏液性上皮性卵巢癌、输卵管癌和原发性腹膜癌(HGOC)患者,BRCA1和BRCA2基因咨询(GC)及种系基因检测(GT)被视为标准治疗方案。我们描述了一项通用基因检测计划,旨在将我院HGOC患者接受GC和GT的推荐率及接受率提高至80%以上。

方法

回顾性分析2012年9月1日至2015年8月31日期间在我院妇科肿瘤门诊就诊以评估HGOC的连续队列患者的数据。数据从肿瘤登记处、病历和研究数据库中提取。采用描述性统计评估患者特征以及GC、GT和PARP抑制剂的使用情况。受计划-执行-研究-行动循环方法影响,制定了各种临床干预措施,包括医生协调的GT、综合GC和辅助GC转诊。

结果

在我们的研究期间,有1636名患者到妇科肿瘤门诊评估HGOC,其中1423名(87.0%)被推荐进行GC和GT。在这些患者中,1214名(85.3%)完成了GT,217名(17.9%)被发现存在BRCA1或BRCA2突变。在BRCA阳性患者中,167名有复发或进展性疾病,其中56名接受了PARP抑制剂治疗。

结论

在实施通用基因检测计划后,我院HGOC患者的GC和GT推荐率及完成率超过了80%。对HGOC患者进行通用基因检测是识别可能从PARP抑制剂治疗中获益患者的一种策略。

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