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前列腺癌少数族裔人群中种系检测的差异。

Disparities in germline testing among racial minorities with prostate cancer.

机构信息

University of California San Diego, San Diego, CA, USA.

University of Washington, Seattle, WA, USA.

出版信息

Prostate Cancer Prostatic Dis. 2022 Sep;25(3):403-410. doi: 10.1038/s41391-021-00469-3. Epub 2021 Nov 13.

DOI:10.1038/s41391-021-00469-3
PMID:34775478
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8590439/
Abstract

Germline testing is becoming increasingly relevant in prostate cancer (PCa) screening, prognosis, and management. A subset of patients with PCa harbor pathogenic/likely pathogenic variants (P/LPVs) in genes mediating DNA-repair processes, and these P/LPVs have implications for cancer screening, treatment, and cascade testing. As a result, it is recommended that all men with high-risk localized and metastatic PCa undergo routine germline testing. As more PCa patients undergo germline testing, it is important that clinicians and genetics experts recognize current disparities in germline testing rates among racial/ethnic minorities in the United States. The reasons for these disparities are multiple and require similarly manifold consideration to close the germline testing gap and reduce inequities in PCa screening, management, and treatment.

摘要

胚系检测在前列腺癌(PCa)筛查、预后和管理中变得越来越重要。一部分 PCa 患者携带介导 DNA 修复过程的基因中的致病性/可能致病性变异(P/LPVs),这些 P/LPVs 对癌症筛查、治疗和级联检测有影响。因此,建议所有高危局限性和转移性 PCa 患者进行常规胚系检测。随着越来越多的 PCa 患者接受胚系检测,临床医生和遗传专家认识到美国少数族裔中胚系检测率存在差异是很重要的。造成这些差异的原因有很多,需要多方面考虑来缩小胚系检测差距,减少 PCa 筛查、管理和治疗方面的不平等。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49f9/8590439/07aa8f1b2134/41391_2021_469_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49f9/8590439/07aa8f1b2134/41391_2021_469_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49f9/8590439/07aa8f1b2134/41391_2021_469_Fig1_HTML.jpg

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本文引用的文献

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2
Impact of Pathogenic Germline DNA Damage Repair alterations on Response to Intense Neoadjuvant Androgen Deprivation Therapy in High-risk Localized Prostate Cancer.胚系 DNA 损伤修复相关致病性改变对高危局限性前列腺癌患者强烈新辅助雄激素剥夺治疗反应的影响。
Eur Urol. 2021 Sep;80(3):295-303. doi: 10.1016/j.eururo.2021.03.031. Epub 2021 Apr 19.
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Comparison of germline mutations in African American and Caucasian men with metastatic prostate cancer.
“寄希望于更好的机会”:黑人前列腺癌患者对基因咨询与检测的看法
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Germline and somatic testing for homologous repair deficiency in patients with prostate cancer (part 1 of 2).前列腺癌患者同源修复缺陷的种系和体细胞检测(第1部分,共2部分)
Prostate Cancer Prostatic Dis. 2024 Oct 1. doi: 10.1038/s41391-024-00901-4.
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BMC Public Health. 2024 Sep 18;24(1):2533. doi: 10.1186/s12889-024-20008-8.
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Clinicoecon Outcomes Res. 2024 Sep 6;16:657-674. doi: 10.2147/CEOR.S468680. eCollection 2024.
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