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前列腺癌种系遗传学的当前进展与问题

Current progress and questions in germline genetics of prostate cancer.

作者信息

Isaacs William B, Xu Jianfeng

机构信息

Brady Urological Institute, Johns Hopkins University, School of Medicine, Sidney Kimmel Comprehensive Cancer Center, Baltimore, MD, USA.

North Shore University Health System, Research Institute, Evanston, IL, USA.

出版信息

Asian J Urol. 2019 Jan;6(1):3-9. doi: 10.1016/j.ajur.2018.10.001. Epub 2018 Nov 2.

DOI:10.1016/j.ajur.2018.10.001
PMID:30775244
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6363602/
Abstract

Dramatic progress has been made in the area of germline genetics of prostate cancer (PCa) in the past decade. Both common and rare genetic variants with effects on risk ranging from barely detectable to outright practice-changing have been identified. For men with high risk PCa, the application of genetic testing for inherited pathogenic mutations is becoming standard of care. A major question exists about which additional populations of men to test, as men at all risk levels can potentially benefit by knowing their unique genetic profile of germline susceptibility variants. This article will provide a brief overview of some current issues in understanding inherited susceptibility for PCa.

摘要

在过去十年中,前列腺癌(PCa)的种系遗传学领域取得了显著进展。已经确定了对风险有影响的常见和罕见基因变异,其影响范围从几乎无法检测到彻底改变临床实践。对于高危前列腺癌男性患者,进行遗传性致病突变基因检测正成为标准治疗手段。关于对哪些其他男性群体进行检测存在一个主要问题,因为所有风险水平的男性都可能通过了解其独特的种系易感性变异基因谱而受益。本文将简要概述目前在理解前列腺癌遗传易感性方面的一些问题。

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本文引用的文献

1
Germline Mutations in ATM and BRCA1/2 Are Associated with Grade Reclassification in Men on Active Surveillance for Prostate Cancer.胚系 ATM 和 BRCA1/2 突变与主动监测前列腺癌男性的分级重新分类相关。
Eur Urol. 2019 May;75(5):743-749. doi: 10.1016/j.eururo.2018.09.021. Epub 2018 Oct 8.
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Inactivation of CDK12 Delineates a Distinct Immunogenic Class of Advanced Prostate Cancer.CDK12 失活定义了一类独特的免疫原性晚期前列腺癌。
Cell. 2018 Jun 14;173(7):1770-1782.e14. doi: 10.1016/j.cell.2018.04.034.
3
Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.在一项大型荟萃分析中对前列腺癌易感性位点进行精细映射,确定了候选因果变异。
Nat Commun. 2018 Jun 11;9(1):2256. doi: 10.1038/s41467-018-04109-8.
4
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.对超过 14 万名男性的关联分析确定了 63 个新的前列腺癌易感性位点。
Nat Genet. 2018 Jul;50(7):928-936. doi: 10.1038/s41588-018-0142-8. Epub 2018 Jun 11.
5
PD-1/PD-L1 pathway inhibitors in advanced prostate cancer.PD-1/PD-L1 通路抑制剂在晚期前列腺癌中的应用。
Expert Rev Clin Pharmacol. 2018 May;11(5):475-486. doi: 10.1080/17512433.2018.1464388. Epub 2018 Apr 24.
6
The long tail of oncogenic drivers in prostate cancer.前列腺癌中致癌驱动基因的长尾现象。
Nat Genet. 2018 May;50(5):645-651. doi: 10.1038/s41588-018-0078-z. Epub 2018 Apr 2.
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Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.遗传性前列腺癌风险的基因检测作用:2017 年费城前列腺癌共识会议。
J Clin Oncol. 2018 Feb 1;36(4):414-424. doi: 10.1200/JCO.2017.74.1173. Epub 2017 Dec 13.
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Reclassification of prostate cancer risk using sequentially identified SNPs: Results from the REDUCE trial.利用顺序识别的单核苷酸多态性重新分类前列腺癌风险:REDUCE试验结果
Prostate. 2017 Aug;77(11):1179-1186. doi: 10.1002/pros.23369. Epub 2017 Jul 2.
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J Clin Oncol. 2017 Jul 10;35(20):2240-2250. doi: 10.1200/JCO.2016.69.4935. Epub 2017 Apr 27.
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Germline Mutations in ATM and BRCA1/2 Distinguish Risk for Lethal and Indolent Prostate Cancer and are Associated with Early Age at Death.ATM及BRCA1/2基因的种系突变可区分致死性和惰性前列腺癌的风险,且与早死相关。
Eur Urol. 2017 May;71(5):740-747. doi: 10.1016/j.eururo.2016.11.033. Epub 2016 Dec 15.