转移性去势抵抗性前列腺癌男性的BRCA突变检测:澳大利亚临床实践实用指南。

IF 1.4 4区 医学 Q4 ONCOLOGY Asia-Pacific journal of clinical oncology Pub Date : 2025-01-18 DOI:10.1111/ajco.14150
Arun A Azad, Howard Gurney, Ainsley Campbell, Jeffrey C Goh, Vivek Rathi
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引用次数: 0

摘要

一些转移性去势抵抗性前列腺癌(mCRPC)患者具有DNA损伤修复(DDR)基因BRCA1和BRCA2的种系或获得性缺陷。BRCA突变的肿瘤对多聚adp核糖聚合酶抑制剂(PARPi)如奥拉帕尼和鲁卡帕尼敏感。因此,识别BRCA突变患者是否适合PARPi治疗的分子诊断测试已成为管理mCRPC患者不可或缺的组成部分。在澳大利亚目前的分子检测途径中存在一些实际的挑战,这些挑战可能会影响检测的成功。测试的成功往往取决于组织处理和实验室处理技术的质量,以尽量减少DNA降解和次优测序数据质量。通过教育和提高对专家建议的认识,可以促进澳大利亚更多地采用最佳测试做法。在此,我们就如何优化mCRPC患者的BRCA分子诊断检测提供专家建议。分子诊断测试的优化和标准化将支持卫生保健提供者和研究机构建立更有效的测试途径,使人们能够获得PARPi等靶向治疗,并改善患者的治疗效果。
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BRCA Mutation Testing in Men with Metastatic Castration-Resistant Prostate Cancer: Practical Guidance for Australian Clinical Practice.

Some patients with metastatic castration-resistant prostate cancer (mCRPC) possess germline or acquired defects in the DNA damage repair (DDR) genes BRCA1 and BRCA2. Tumors with BRCA mutations exhibit sensitivity to poly-ADP ribose polymerase inhibitors (PARPi) such as olaparib and rucaparib. As a result, molecular diagnostic testing to identify patients with BRCA mutations eligible for the PARPi therapy has become an integral component of managing patients with mCRPC. There are practical challenges in the current molecular testing pathway in Australia that can compromise testing success. Testing success is often contingent on quality of tissue handling and laboratory processing techniques to minimize DNA degradation and suboptimal sequencing data quality. Greater adoption of best testing practices in Australia can be facilitated with education and greater awareness of expert recommendations. Here, we provide expert recommendations on how to optimize BRCA molecular diagnostic testing in patients with mCRPC. Optimization and standardization of molecular diagnostic testing will support health care providers and institutes in establishing more efficient testing pathways, enabling access to targeted therapies such as PARPi, and improving patient outcomes.

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来源期刊
CiteScore
3.40
自引率
0.00%
发文量
175
审稿时长
6-12 weeks
期刊介绍: Asia–Pacific Journal of Clinical Oncology is a multidisciplinary journal of oncology that aims to be a forum for facilitating collaboration and exchanging information on what is happening in different countries of the Asia–Pacific region in relation to cancer treatment and care. The Journal is ideally positioned to receive publications that deal with diversity in cancer behavior, management and outcome related to ethnic, cultural, economic and other differences between populations. In addition to original articles, the Journal publishes reviews, editorials, letters to the Editor and short communications. Case reports are generally not considered for publication, only exceptional papers in which Editors find extraordinary oncological value may be considered for review. The Journal encourages clinical studies, particularly prospectively designed clinical trials.
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