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个体化前列腺癌筛查:利用基因组信息改善 PSA 检测。

Personalized prostate cancer screening: improving PSA tests with genomic information.

机构信息

Department of Epidemiology and Biostatistics, Institute for Human Genetics, and Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.

出版信息

Sci Transl Med. 2010 Dec 15;2(62):62ps55. doi: 10.1126/scitranslmed.3001861.

DOI:10.1126/scitranslmed.3001861
PMID:21160075
Abstract

The use of a prostate-specific antigen (PSA) test to screen for prostate cancer is controversial because of its modest predictive value and the potential overdiagnosis and over-treatment of the disease. A research article in this issue of Science Translational Medicine describes single-nucleotide polymorphisms (SNPs) in or near six genes that are independently associated with serum PSA concentrations and that help to explain interindividual PSA variation. Three of these SNPs are also associated with prostate biopsy outcomes. These findings are an important step toward incorporating genetic markers into PSA screening, with the ultimate goal of devising personalized PSA tests for use in the clinic.

摘要

使用前列腺特异性抗原(PSA)检测进行前列腺癌筛查存在争议,因为其预测价值有限,且可能导致过度诊断和过度治疗。本期《科学转化医学》中的一篇研究文章描述了六个基因中的或附近的单核苷酸多态性(SNPs),这些 SNPs 与血清 PSA 浓度独立相关,并有助于解释个体间 PSA 变化。这三个 SNPs 也与前列腺活检结果相关。这些发现是将遗传标志物纳入 PSA 筛查的重要一步,最终目标是设计用于临床的个性化 PSA 检测。

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Personalized prostate cancer screening: improving PSA tests with genomic information.个体化前列腺癌筛查:利用基因组信息改善 PSA 检测。
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2
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引用本文的文献

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Comprehensive Analysis of Multiple Cohort Datasets Deciphers the Utility of Germline Single-Nucleotide Polymorphisms in Prostate Cancer Diagnosis.多队列数据集综合分析揭示胚系单核苷酸多态性在前列腺癌诊断中的效用。
Cancer Prev Res (Phila). 2021 Jul;14(7):741-752. doi: 10.1158/1940-6207.CAPR-20-0534. Epub 2021 Apr 17.
2
Common genetic and clinical risk factors: association with fatal prostate cancer in the Cohort of Swedish Men.常见的遗传和临床风险因素:与瑞典男性队列中致命前列腺癌的关联。
Prostate Cancer Prostatic Dis. 2021 Sep;24(3):845-851. doi: 10.1038/s41391-021-00341-4. Epub 2021 Mar 15.
3
Polygenic hazard score is associated with prostate cancer in multi-ethnic populations.
多基因危险评分与多民族人群中的前列腺癌有关。
Nat Commun. 2021 Feb 23;12(1):1236. doi: 10.1038/s41467-021-21287-0.
4
Additional SNPs improve risk stratification of a polygenic hazard score for prostate cancer. 多基因危险评分中加入额外 SNPs 可改善前列腺癌风险分层。
Prostate Cancer Prostatic Dis. 2021 Jun;24(2):532-541. doi: 10.1038/s41391-020-00311-2. Epub 2021 Jan 8.
5
A Genetic Risk Score to Personalize Prostate Cancer Screening, Applied to Population Data.一种用于个性化前列腺癌筛查的遗传风险评分,应用于人群数据。
Cancer Epidemiol Biomarkers Prev. 2020 Sep;29(9):1731-1738. doi: 10.1158/1055-9965.EPI-19-1527. Epub 2020 Jun 24.
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Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts.用于指导侵袭性前列腺癌筛查的多基因风险评分:在大规模队列中的开发与验证
BMJ. 2018 Jan 10;360:j5757. doi: 10.1136/bmj.j5757.
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Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer.全基因组关联研究前列腺特异性抗原水平鉴定与前列腺癌无关的新位点。
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Incorporating Known Genetic Variants Does Not Improve the Accuracy of PSA Testing to Identify High Risk Prostate Cancer on Biopsy.纳入已知基因变异并不能提高前列腺特异性抗原(PSA)检测在活检中识别高危前列腺癌的准确性。
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