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卵巢癌中的突变:检测、意义及治疗考量

mutation in ovarian cancer: testing, implications and treatment considerations.

作者信息

Neff Robert T, Senter Leigha, Salani Ritu

机构信息

Department of Obstetrics and Gynecology, Division of Gynecologic Oncology, The Ohio State University Wexner Medical Center, Columbus, OH, USA.

Department of Internal Medicine, Division of Human Genetics, The Ohio State University Wexner Medical Center Columbus, OH, USA.

出版信息

Ther Adv Med Oncol. 2017 Aug;9(8):519-531. doi: 10.1177/1758834017714993. Epub 2017 Jun 19.

DOI:10.1177/1758834017714993
PMID:28794804
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5524247/
Abstract

Ovarian cancer is a heterogeneous disease that encompasses a number of different cellular subtypes, the most common of which is high-grade serous ovarian cancer (HGSOC). Still today, ovarian cancer is primarily treated with chemotherapy and surgery. Recent advances in the hereditary understanding of this disease have shown a significant role for the gene. While only a minority of patients with HGSOC will have a germline mutation, many others may have tumor genetic aberrations within BRCA or other homologous recombination proteins. Genetic screening for these mutations has allowed improved preventative measures and therapeutic development. This review focuses on the understanding of mutations and their relationship with ovarian cancer development, as well as future therapeutic targets.

摘要

卵巢癌是一种异质性疾病,包含多种不同的细胞亚型,其中最常见的是高级别浆液性卵巢癌(HGSOC)。时至今日,卵巢癌主要通过化疗和手术进行治疗。对该疾病遗传方面的最新研究进展表明,[基因名称]基因发挥着重要作用。虽然只有少数HGSOC患者会发生胚系[基因名称]突变,但其他许多患者可能在BRCA或其他同源重组蛋白中存在肿瘤基因畸变。对这些[基因名称]突变进行基因筛查有助于改进预防措施和推动治疗方法的研发。本综述着重阐述对[基因名称]突变的认识及其与卵巢癌发生发展的关系,以及未来的治疗靶点。

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本文引用的文献

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A Phase I-II Study of the Oral PARP Inhibitor Rucaparib in Patients with Germline -Mutated Ovarian Carcinoma or Other Solid Tumors.一项在携带胚系突变的卵巢癌或其他实体瘤患者中开展的口服 PARP 抑制剂鲁卡帕利的 I/II 期研究。
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Rucaparib in relapsed, platinum-sensitive high-grade ovarian carcinoma (ARIEL2 Part 1): an international, multicentre, open-label, phase 2 trial.鲁卡帕利治疗复发铂类敏感型高级别卵巢癌(ARIEL2 研究第 1 部分):一项国际多中心、开放标签、2 期临床试验。
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American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility.美国临床肿瘤学会政策声明更新:癌症易感性的遗传和基因组检测。
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