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BRCA2 基因突变携带者预防性前列腺切除术的临床试验：现在是时候了吗？

A Clinical Trial of Prophylactic Prostatectomy for BRCA2 Mutation Carriers: Is Now the Time?

机构信息

Division of Urology, University of Toronto, Toronto, Canada.

Division of Urology, University of Toronto, Toronto, Canada.

出版信息

Eur Urol Focus. 2021 May;7(3):506-507. doi: 10.1016/j.euf.2021.04.018. Epub 2021 May 11.

DOI:10.1016/j.euf.2021.04.018
PMID:33994169
Abstract

The greater availability and use of genetic testing have improved our ability to determine that men with BRCA2 mutations are at significantly higher risk of developing and dying of prostate cancer. We should continue research efforts in secondary prevention for this population, but must also explore primary preventative strategies such as prophylactic prostatectomy. Efforts are under way at our institution for a clinical trial in this area.

摘要

遗传检测的更大可用性和使用提高了我们确定 BRCA2 突变男性患前列腺癌和死于前列腺癌的风险显著增加的能力。我们应该继续为这一人群进行二级预防研究，但也必须探索预防性前列腺切除术等初级预防策略。我们机构正在为此领域的临床试验努力。

相似文献

1
A Clinical Trial of Prophylactic Prostatectomy for BRCA2 Mutation Carriers: Is Now the Time?BRCA2 基因突变携带者预防性前列腺切除术的临床试验：现在是时候了吗？
Eur Urol Focus. 2021 May;7(3):506-507. doi: 10.1016/j.euf.2021.04.018. Epub 2021 May 11.
2
Patient-derived xenografts reveal that intraductal carcinoma of the prostate is a prominent pathology in BRCA2 mutation carriers with prostate cancer and correlates with poor prognosis.患者衍生异种移植物揭示，前列腺内导管癌是携带 BRCA2 突变的前列腺癌患者的突出病理学特征，与不良预后相关。
Eur Urol. 2015 Mar;67(3):496-503. doi: 10.1016/j.eururo.2014.08.007. Epub 2014 Aug 22.
3
High grade prostatic intraepithelial neoplasia does not display loss of heterozygosity at the mutation locus in BRCA2 mutation carriers with aggressive prostate cancer.高级别前列腺上皮内瘤变在伴有侵袭性前列腺癌的 BRCA2 突变携带者中不会在突变部位显示杂合性丢失。
BJU Int. 2012 Dec;110(11 Pt C):E1181-6. doi: 10.1111/j.1464-410X.2012.11519.x. Epub 2012 Oct 4.
4
The role of prophylactic prostatectomy as a primary prevention strategy in high-risk germline mutation carriers.预防性前列腺切除术作为高风险种系突变携带者的一级预防策略的作用。
Curr Opin Urol. 2022 Sep 1;32(5):445-450. doi: 10.1097/MOU.0000000000001019. Epub 2022 Jul 18.
5
BRCA1 and BRCA2 mutations have no major role in predisposition to prostate cancer in Finland.在芬兰，BRCA1和BRCA2基因突变在前列腺癌易感性方面没有主要作用。
J Med Genet. 2003 Aug;40(8):e98. doi: 10.1136/jmg.40.8.e98.
6
Founder mutations in BRCA1/2 are not frequent in Canadian Ashkenazi Jewish men with prostate cancer.在患有前列腺癌的加拿大德系犹太人男性中，BRCA1/2基因的始祖突变并不常见。
BMC Med Genet. 2003 Aug 11;4:7. doi: 10.1186/1471-2350-4-7.
7
Subgroups of familial and aggressive prostate cancer with considerable frequencies of BRCA2 mutations.具有相当高 BRCA2 突变频率的家族性和侵袭性前列腺癌亚群。
Prostate. 2014 Oct;74(14):1444-51. doi: 10.1002/pros.22860. Epub 2014 Aug 11.
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The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis.BRCA1 和 BRCA2 突变与前列腺癌风险、频率和死亡率的关联：一项荟萃分析。
Prostate. 2019 Jun;79(8):880-895. doi: 10.1002/pros.23795. Epub 2019 Mar 22.
9
The impact of a BRCA2 mutation on mortality from screen-detected prostate cancer.BRCA2突变对筛查发现的前列腺癌死亡率的影响。
Br J Cancer. 2014 Sep 9;111(6):1238-40. doi: 10.1038/bjc.2014.428. Epub 2014 Aug 7.
10
BRCA2 mutations should be screened early and routinely as markers of poor prognosis: evidence from 8,988 patients with prostate cancer.BRCA2突变应作为预后不良的标志物进行早期和常规筛查：来自8988例前列腺癌患者的证据。
Oncotarget. 2017 Jun 20;8(25):40222-40232. doi: 10.18632/oncotarget.16712.

引用本文的文献

1
Prostate cancer risk, screening and management in patients with germline BRCA1/2 mutations.携带种系BRCA1/2突变患者的前列腺癌风险、筛查与管理
Nat Rev Urol. 2023 Apr;20(4):205-216. doi: 10.1038/s41585-022-00680-4. Epub 2023 Jan 4.
2
Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.一组家族性前列腺癌男性患者中的新型生殖系突变
Cancers (Basel). 2022 Jul 26;14(15):3623. doi: 10.3390/cancers14153623.
3
Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers.高危基因突变携带者前列腺癌的临床管理
Cancers (Basel). 2022 Feb 16;14(4):1004. doi: 10.3390/cancers14041004.