基于同源重组修复缺陷的患者评估和治疗计划

IF 11.5 2区 生物学 Q1 GENETICS & HEREDITY Genomics, Proteomics & Bioinformatics Pub Date : 2023-10-01 Epub Date: 2023-02-14 DOI:10.1016/j.gpb.2023.02.004
Wenbin Li, Lin Gao, Xin Yi, Shuangfeng Shi, Jie Huang, Leming Shi, Xiaoyan Zhou, Lingying Wu, Jianming Ying
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引用次数: 0

摘要

参与 DNA 损伤反应的基因缺陷会导致同源重组修复缺陷(HRD)。HRD在多种肿瘤类型的癌症患者中都有发现,在癌症预防和治疗中具有临床意义。越来越多的证据表明,HRD 是评估肿瘤细胞对聚(ADP 核糖)聚合酶抑制剂和铂类化疗药物治疗反应的生物标志物。然而,HRD 的生物学特性十分复杂,其应用和不同 HRD 生物标志物检测方法的益处也存在争议。这主要是由于 HRD 评估和定义(基因水平测试、基因组疤痕、突变特征或这些方法的组合)不一致,以及难以评估每个基因组事件的贡献。因此,我们旨在回顾将 HRD 作为生物标记物的生物学原理和临床证据。这篇综述为 HRD 评估的标准化和统一化提供了一个蓝图。
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Patient Assessment and Therapy Planning Based on Homologous Recombination Repair Deficiency.

Defects in genes involved in the DNA damage response cause homologous recombination repair deficiency (HRD). HRD is found in a subgroup of cancer patients for several tumor types, and it has a clinical relevance to cancer prevention and therapies. Accumulating evidence has identified HRD as a biomarker for assessing the therapeutic response of tumor cells to poly(ADP-ribose) polymerase inhibitors and platinum-based chemotherapies. Nevertheless, the biology of HRD is complex, and its applications and the benefits of different HRD biomarker assays are controversial. This is primarily due to inconsistencies in HRD assessments and definitions (gene-level tests, genomic scars, mutational signatures, or a combination of these methods) and difficulties in assessing the contribution of each genomic event. Therefore, we aim to review the biological rationale and clinical evidence of HRD as a biomarker. This review provides a blueprint for the standardization and harmonization of HRD assessments.

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来源期刊
Genomics, Proteomics & Bioinformatics
Genomics, Proteomics & Bioinformatics Biochemistry, Genetics and Molecular Biology-Biochemistry
CiteScore
14.30
自引率
4.20%
发文量
844
审稿时长
61 days
期刊介绍: Genomics, Proteomics and Bioinformatics (GPB) is the official journal of the Beijing Institute of Genomics, Chinese Academy of Sciences / China National Center for Bioinformation and Genetics Society of China. It aims to disseminate new developments in the field of omics and bioinformatics, publish high-quality discoveries quickly, and promote open access and online publication. GPB welcomes submissions in all areas of life science, biology, and biomedicine, with a focus on large data acquisition, analysis, and curation. Manuscripts covering omics and related bioinformatics topics are particularly encouraged. GPB is indexed/abstracted by PubMed/MEDLINE, PubMed Central, Scopus, BIOSIS Previews, Chemical Abstracts, CSCD, among others.
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