Study on<em>BRCA</em>1/2 and<em>ATM</em>germline mutations in the Chinese prostate cancer patients

吴俊龙; 顾伟杰

doi:10.19401/j.cnki.1007-3639.2018.08.004

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Study onBRCA1/2 andATMgermline mutations in the Chinese prostate cancer patients

更新时间：2026-01-27

- Study onBRCA1/2 andATMgermline mutations in the Chinese prostate cancer patients
- China Oncology Vol. 28, Issue 8, Pages: 584-589(2018)
- 作者机构：
  
  复旦大学附属肿瘤医院泌尿外科，复旦大学上海医学院肿瘤学系,上海,200032
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2018.08.004
  CLC： R737.25
- Published Online：14 September 2018，
  
  Published：14 September 2018
- 稿件说明：
移动端阅览
韦煜,吴俊龙,顾伟杰,等. 中国前列腺癌患者

吴俊龙, 顾伟杰. Study onBRCA1/2 andATMgermline mutations in the Chinese prostate cancer patients[J]. China Oncology, 2018, 28(8): 584-589.
韦煜,吴俊龙,顾伟杰,等. 中国前列腺癌患者 DOI： 10.19401/j.cnki.1007-3639.2018.08.004.

吴俊龙, 顾伟杰. Study onBRCA1/2 andATMgermline mutations in the Chinese prostate cancer patients[J]. China Oncology, 2018, 28(8): 584-589. DOI： 10.19401/j.cnki.1007-3639.2018.08.004.

摘要

背景与目的：BRCA1/2、ATM基因的致病性胚系突变与前列腺癌的发病风险和疾病进展密切相关，同时可对转移性去势抵抗性前列腺癌（metastatic castration-resistant prostate cancer，mCRPC）患者的PARP抑制剂治疗、铂类化疗进行指导，然而，基于中国人群的研究鲜有报道。本研究旨在揭示中国人群前列腺癌患者BRCA1/2、ATM基因的胚系突变率，从而指导基因检测和临床治疗。方法：前瞻性分析53例遗传咨询门诊确诊为前列腺癌患者的临床资料，并对这些患者的胚系DNA进行测序，将目标基因BRCA1/2、ATM的突变依据美国医学遗传学与基因组学学会（American College of Medical Genetics and Genomics，ACMG）遗传突变分类标准与指南评估致病性。同时对致病性突变与前列腺癌患者发病年龄、家族史、Gleason评分、前列腺特异抗原（prostate-specific antigen，PSA）值、肿瘤转移之间的关系进行统计学分析。结果：中国人群前列腺癌患者BRCA1/2、ATM基因的致病性胚系突变率为7.55%，转移性前列腺癌患者的突变率为9.68%。在中国人群中，BRCA1/2、ATM基因的致病性突变与前列腺癌的早期发生有关（P=0.011）；但在家族史、Gleason评分、PSA水平及肿瘤转移上差异无统计学意义（P0.05）。结论：本研究初步建立了中国人群基因检测推荐标准，对包括转移性前列腺癌患者和早发前列腺癌患者在内的高危胚系突变者推荐进行基因筛查，以更好地进行临床诊疗及遗传咨询。

Abstract

Background and purpose: Pathogenic germline mutations in BRCA1/2 and ATM are significantly associated with risk and progression of prostate cancer. In addition

metastatic castration-resistant prostate cancer (mCRPC) patients

who possess germline pathogenic BRCA1/2 or ATM mutation

can be treated with PARP inhibitor olaparib and platinum-based chemotherapy. However

few such studies in the Chinese population have been reported by far. This study aimed to reveal the frequency of such mutations in Chinese patients

so as to guide genetic testing and clinical management. Methods: Germline DNA samples of 53 prostate cancer patients were sequenced for these three genes. Pathogenic and likely pathogenic mutations were screened out in accordance with the American College of Medical Genetics and Genomics (ACMG) Standards and Guidelines. Statistical methods were used to analyze the association between germline mutation status and clinical relevance. Results: A total of 4 germline mutations in BRCA1/2 and ATM that were presumed to be pathogenic were identified among 53 men (7.55%). The frequency of germline mutations in these genes among metastatic cases was 9.68% which was similar to the figure reported by the foreigners. And mutation frequency among early-onset cases significantly exceeded the others (P=0.011). However

there was no difference in mutation frequencies according to family history

Gleason score or PSA value (P0.05). Conclusion: We initially established the criteria on genetic testing for the Chinese patients. Genetic testing and counseling should be encouraged for metastatic and early-onset cases in order to adopt a better treatment strategy.

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Study onBRCA1/2 andATMgermline mutations in the Chinese prostate cancer patients

DOI：10.19401/j.cnki.1007-3639.2018.08.004

摘要

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关键词

Keywords

references