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Practical Considerations and Challenges for Germline Genetic Testing in Patients With Prostate Cancer: Recommendations From the Germline Genetics Working Group of the PCCTC.前列腺癌患者种系基因检测的实际考虑和挑战:来自 PCCTC 种系遗传学工作组的建议。
JCO Oncol Pract. 2020 Dec;16(12):811-819. doi: 10.1200/OP.20.00431. Epub 2020 Sep 28.
2
Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium.前列腺癌中胚系基因检测:实践与障碍:前列腺癌临床研究协作组胚系遗传学工作组的调查结果。
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Clinical Implications of Germline Testing in Newly Diagnosed Prostate Cancer.胚系检测在新发前列腺癌中的临床意义。
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Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.前列腺癌种系检测的实施:费城前列腺癌共识会议 2019 年。
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Homologous Recombination Repair Testing Patterns and Outcomes in mCRPC by Alteration Status and Race.转移性去势抵抗性前列腺癌(mCRPC)中同源重组修复检测模式及按改变状态和种族划分的结果
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The Evolution of Genetic Testing from Focused Testing to Panel Testing and from Patient Focused to Population Testing: Are We There Yet?基因检测从靶向检测到基因组合检测,以及从患者导向检测到群体检测的演变:我们实现目标了吗?
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Guidelines for genetic testing in prostate cancer: a scoping review.前列腺癌基因检测指南:范围综述。
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本文引用的文献

1
Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.前列腺癌种系检测的实施:费城前列腺癌共识会议 2019 年。
J Clin Oncol. 2020 Aug 20;38(24):2798-2811. doi: 10.1200/JCO.20.00046. Epub 2020 Jun 9.
2
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.NCCN 指南解读:遗传/家族性高风险评估:乳腺、卵巢和胰腺,第 1.2020 版。
J Natl Compr Canc Netw. 2020 Apr;18(4):380-391. doi: 10.6004/jnccn.2020.0017.
3
What men want: Qualitative analysis of what men with prostate cancer (PCa) want to learn regarding genetic referral, counseling, and testing.男性的需求:对前列腺癌(PCa)男性患者关于遗传咨询、辅导和检测的学习需求的定性分析。
Prostate. 2020 Apr;80(5):441-450. doi: 10.1002/pros.23959. Epub 2020 Feb 6.
4
Hematologic toxicity in BRCA1 and BRCA2 mutation carriers during chemotherapy: A retrospective matched cohort study.BRCA1 和 BRCA2 突变携带者化疗期间的血液学毒性:一项回顾性匹配队列研究。
Cancer Med. 2019 Sep;8(12):5609-5618. doi: 10.1002/cam4.2471. Epub 2019 Aug 12.
5
The current state of genetic counseling assistants in the United States.美国遗传咨询助理的现状。
J Genet Couns. 2019 Oct;28(5):962-973. doi: 10.1002/jgc4.1148. Epub 2019 Jul 9.
6
New name for breast-cancer syndrome could help to save lives.乳腺癌综合征的新名称可能有助于挽救生命。
Nature. 2019 Jul;571(7763):27-29. doi: 10.1038/d41586-019-02015-7.
7
Genomics-Enabled Precision Medicine for Cancer.基因组学助力的癌症精准医学
Cancer Treat Res. 2019;178:137-169. doi: 10.1007/978-3-030-16391-4_5.
8
Update on Precision Medicine in Breast Cancer.乳腺癌精准医学的最新进展。
Cancer Treat Res. 2019;178:45-80. doi: 10.1007/978-3-030-16391-4_2.
9
Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium.前列腺癌中胚系基因检测:实践与障碍:前列腺癌临床研究协作组胚系遗传学工作组的调查结果。
Clin Genitourin Cancer. 2019 Aug;17(4):275-282.e1. doi: 10.1016/j.clgc.2019.04.013. Epub 2019 Apr 18.
10
Genetic Counseling and Testing in a Community Setting: Quality, Access, and Efficiency.社区环境中的遗传咨询与检测:质量、可及性与效率
Am Soc Clin Oncol Educ Book. 2019 Jan;39:e34-e44. doi: 10.1200/EDBK_238937. Epub 2019 May 17.

前列腺癌患者种系基因检测的实际考虑和挑战:来自 PCCTC 种系遗传学工作组的建议。

Practical Considerations and Challenges for Germline Genetic Testing in Patients With Prostate Cancer: Recommendations From the Germline Genetics Working Group of the PCCTC.

机构信息

Department of Urology, Feinberg School of Medicine at Northwestern University, Chicago, IL.

Seattle Cancer Care Alliance, Seattle, WA.

出版信息

JCO Oncol Pract. 2020 Dec;16(12):811-819. doi: 10.1200/OP.20.00431. Epub 2020 Sep 28.

DOI:
10.1200/OP.20.00431
PMID:32986533
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7735040/
Abstract

Germline genetic testing is now routinely recommended for patients with prostate cancer (PCa) because of expanded guidelines and options for targeted treatments. However, integrating genetic testing into oncology and urology clinical workflows remains a challenge because of the increased number of patients with PCa requiring testing and the limited access to genetics providers. This suggests a critical unmet need for genetic services outside of historical models. This review addresses current guidelines, considerations, and challenges for PCa genetic testing and offers a practical guide for genetic counseling and testing delivery, with solutions to help address potential barriers and challenges for both providers and patients. As genetic and genomic testing become integral to PCa care, developing standardized systems for implementation in the clinic is essential for delivering precision oncology to patients with PCa and realizing the full scope and impact of genetic testing.

摘要

由于指南的扩大以及针对靶向治疗的选择,对前列腺癌(PCa)患者进行种系基因检测现在已成为常规建议。然而,由于需要检测的 PCa 患者数量增加,以及获得遗传咨询师的机会有限,将基因检测纳入肿瘤学和泌尿科临床工作流程仍然具有挑战性。这表明遗传服务在历史模型之外存在着迫切的需求。本文综述了 PCa 基因检测的现行指南、注意事项和挑战,并为遗传咨询和检测提供了实用指南,提出了解决方案以帮助解决提供者和患者潜在的障碍和挑战。随着遗传和基因组检测成为 PCa 治疗的重要组成部分,在临床中开发实施的标准化系统对于为 PCa 患者提供精准肿瘤学以及实现基因检测的全面范围和影响至关重要。