生物标志物
同源重组
医学
DNA修复
个性化医疗
癌症
计算生物学
基因
生物信息学
生物
遗传学
内科学
作者
Wenbin Li,Lin Gao,Xin Yi,Shuangfeng Shi,Jie Huang,Leming Shi,Xiaoyan Zhou,Lingying Wu,Jianming Ying
标识
DOI:10.1016/j.gpb.2023.02.004
摘要
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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