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卵巢癌与BRCA1/2检测:改善临床护理与疾病预防的机遇

Ovarian Cancer and BRCA1/2 Testing: Opportunities to Improve Clinical Care and Disease Prevention.

作者信息

Karakasis Katherine, Burnier Julia V, Bowering Valerie, Oza Amit M, Lheureux Stephanie

机构信息

Drug Development Program, Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University of Toronto , Toronto, ON , Canada.

出版信息

Front Oncol. 2016 May 11;6:119. doi: 10.3389/fonc.2016.00119. eCollection 2016.

Abstract

Without prevention or screening options available, ovarian cancer is the most lethal malignancy of the female reproductive tract. High-grade serous ovarian cancer (HGSOC) is the most common histologic subtype, and the role of germline BRCA1/2 mutation in predisposition and prognosis is established. Given the targeted treatment opportunities with PARP inhibitors, a predictive role for BRCA1/2 mutation has emerged. Despite recommendations to provide BRCA1/2 testing to all women with histologically confirmed HGSOC, uniform implementation remains challenging. The opportunity to review and revise genetic screening and testing practices will identify opportunities, where universal adoption of BRCA1/2 mutation testing will impact and improve treatment of women with ovarian cancer. Improving education and awareness of genetic testing for women with cancer, as well as the broader general community, will help focus much-needed attention on opportunities to advance prevention and screening programs in ovarian cancer. This is imperative not only for women with cancer and those at risk of developing cancer but also for their first-degree relatives. In addition, BRCA1/2 testing may have direct implications for patients with other types of cancers, many of which are now being found to have BRCA1/2 involvement.

摘要

由于缺乏预防或筛查手段,卵巢癌是女性生殖道最致命的恶性肿瘤。高级别浆液性卵巢癌(HGSOC)是最常见的组织学亚型,胚系BRCA1/2突变在易感性和预后中的作用已得到证实。鉴于PARP抑制剂带来的靶向治疗机会,BRCA1/2突变的预测作用已显现。尽管建议对所有组织学确诊为HGSOC的女性进行BRCA1/2检测,但统一实施仍具有挑战性。审查和修订基因筛查及检测实践的机会将发现一些机遇,即普遍采用BRCA1/2突变检测将对卵巢癌女性的治疗产生影响并加以改善。提高癌症女性以及更广泛的普通人群对基因检测的教育和认识,将有助于把急需的注意力集中在推进卵巢癌预防和筛查项目的机遇上。这不仅对癌症女性及其有患癌风险的人至关重要,对其一级亲属也同样重要。此外,BRCA1/2检测可能对其他类型癌症的患者有直接影响,现在发现其中许多癌症都与BRCA1/2有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e8fb/4862980/50548e44483e/fonc-06-00119-g001.jpg

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