The progress and prospect of homologous recombination deficiency detection in clinical diagnosis and treatment of cancer

郁　俐; 沈敏娜; 姜惠琴; 王蓓丽; 郭　玮

doi:10.19401/j.cnki.1007-3639.2021.04.015

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The progress and prospect of homologous recombination deficiency detection in clinical diagnosis and treatment of cancer

更新时间：2026-01-27

- The progress and prospect of homologous recombination deficiency detection in clinical diagnosis and treatment of cancer
- China Oncology Vol. 31, Issue 4, Pages: 344-349(2021)
- 作者机构：
  
  1. 复旦大学附属中山医院检验科,上海,200032
  2. 复旦大学附属中山医院厦门医院检验科,福建,厦门,361015
- 作者简介：
- 基金信息：
- DOI：10.19401/j.cnki.1007-3639.2021.04.015
  CLC： R730.4
- Published Online：29 April 2021，
  
  Published：29 April 2021
- 稿件说明：
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郁　俐, 沈敏娜, 姜惠琴, 王蓓丽, 郭　玮 . 同源重组缺陷检测在肿瘤临床诊疗中的研究进展与展望[J]. 中国癌症杂志, 2021, 31(4): 344-349.

郁　俐, 沈敏娜, 姜惠琴, et al. The progress and prospect of homologous recombination deficiency detection in clinical diagnosis and treatment of cancer[J]. China Oncology, 2021, 31(4): 344-349.
郁　俐, 沈敏娜, 姜惠琴, 王蓓丽, 郭　玮 . 同源重组缺陷检测在肿瘤临床诊疗中的研究进展与展望[J]. 中国癌症杂志, 2021, 31(4): 344-349. DOI： 10.19401/j.cnki.1007-3639.2021.04.015.

郁　俐, 沈敏娜, 姜惠琴, et al. The progress and prospect of homologous recombination deficiency detection in clinical diagnosis and treatment of cancer[J]. China Oncology, 2021, 31(4): 344-349. DOI： 10.19401/j.cnki.1007-3639.2021.04.015.

摘要

同源重组（homologous recombination，HR）是修复DNA双链断裂、单链DNA间隙和停滞或折叠复制叉的主要途径，有助于端粒维持，确保减数分裂过程中染色体的正确分离。同源重组修复（homologous recombination repair，HRR）通路是DNA损伤修复通路之一，在肿瘤中有较高的突变频率。除了BRCA1/2基因突变之外，同源重组缺陷（homologous recombination deficiency，HRD）也可以由其他机制引起，例如HRR相关基因的胚系突变、体细胞突变、基因组稳定性及HRR途径中涉及基因的表观遗传修饰等。最新临床研究数据发现，通过HRR基因突变检测和基因瘢痕检测来反映HRD状态可有效预测肿瘤患者使用多腺苷二磷酸核糖聚合酶［poly（ADP-ribose）polymerase，PARP］抑制剂（PARP inhibitor，PARPi）的疗效，帮助患者精准用药及预后判断。鉴于在肿瘤中识别HRD的方法多种多样。总结HRD检测方法，探讨HRD检测在临床实践中的价值，为肿瘤的精准治疗奠定基础。

Abstract

Homologous recombination (HR) is the main way to repair DNA double-stranded breaks

single-stranded DNA gaps and stagnation or folding replication forks

helping to maintain telomeres and ensure the correct segregation of chromosomes during meiosis. Homologous recombination repair (HRR) pathway is one of the DNA damage repair pathways

which has a high mutation frequency in cancers. Besides BRCA1/2 mutations

homologous recombination deficiency (HRD) can also be caused by other mechanisms

such as germline mutations

somatic mutations

genome stability of HRR-related genes and epigenetic modification of HRR genes. The latest clinical data show that reflecting HRD status through HRR gene mutations detection and genomic scar detection can effectively predict the efficiency of poly (ADP-ribose) polymerase inhibitor (PARPi) in patients with cancer and help patients to accurately use drugs and predict the prognosis. However

there are a variety of methods to identify HRD in cancers

the purpose of this paper was to summarize the detection methods of homologous recombination

to explore the value of HRD detection in clinical application

and to lay a foundation for precise treatment of cancer.

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复旦大学附属肿瘤医院乳腺外科，复旦大学上海医学院肿瘤学系

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