Patient Assessment and Therapy Planning Based on Homologous Recombination Repair Deficiency  

作　　者：Wenbin Li Lin Gao Xin Yi Shuangfeng Shi Jie Huang Leming Shi Xiaoyan Zhou Lingying Wu Jianming Ying 

机构地区：[1]Department of Pathology,National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100021,China [2]Geneplus–Shenzhen,Shenzhen 518000,China [3]Institute of Microbiology,Chinese Academy of Sciences,Beijing 100101,China [4]Geneplus–Beijing,Beijing 102206,China [5]National Institutes for Food and Drug Control,Beijing 100050,China [6]State Key Laboratory of Genetic Engineering,Human Phenome Institute,School of Life Sciences,Fudan University,Shanghai 200438,China [7]Department of Pathology,Fudan University Shanghai Cancer Center,Shanghai 200032,China [8]Department of Gynecologic Oncology,National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100021,China

出　　处：《Genomics, Proteomics & Bioinformatics》2023年第5期962-975,共14页基因组蛋白质组与生物信息学报（英文版）

基　　金：supported by the National Key R&D Program of China(Grant No.2022YFC2409902);the National Natural Science Foundation of China(Grant No.82172876);the Beijing Nova Program of Science and Technology(Grant No.Z191100001119095);the Chinese Academy of Medical Sciences(CAMS)Innovation Fund for Medical Sciences(Grant No.2021-I2M-1-066);the Beijing Hope Run Special Fund of Cancer Foundation of China(Grant No.LC2019L04).

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.

关 键 词：DNA damage response Homologous recombination repair deficiency Poly(ADP-ribose)polymerase inhibitor BIOMARKER HARMONIZATION 

分 类 号：R73[医药卫生—肿瘤]