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 biomar...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
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Elsevier
2023-10-01
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Series: | Genomics, Proteomics & Bioinformatics |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1672022923000360 |
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author | Wenbin Li Lin Gao Xin Yi Shuangfeng Shi Jie Huang Leming Shi Xiaoyan Zhou Lingying Wu Jianming Ying |
author_facet | Wenbin Li Lin Gao Xin Yi Shuangfeng Shi Jie Huang Leming Shi Xiaoyan Zhou Lingying Wu Jianming Ying |
author_sort | Wenbin Li |
collection | DOAJ |
description | 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. |
first_indexed | 2024-03-07T16:54:07Z |
format | Article |
id | doaj.art-b7c25fd985ea486b8e413214da343df5 |
institution | Directory Open Access Journal |
issn | 1672-0229 |
language | English |
last_indexed | 2024-03-07T16:54:07Z |
publishDate | 2023-10-01 |
publisher | Elsevier |
record_format | Article |
series | Genomics, Proteomics & Bioinformatics |
spelling | doaj.art-b7c25fd985ea486b8e413214da343df52024-03-03T04:29:18ZengElsevierGenomics, Proteomics & Bioinformatics1672-02292023-10-01215962975Patient Assessment and Therapy Planning Based on Homologous Recombination Repair DeficiencyWenbin Li0Lin Gao1Xin Yi2Shuangfeng Shi3Jie Huang4Leming Shi5Xiaoyan Zhou6Lingying Wu7Jianming Ying8Department 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, ChinaGeneplus–Shenzhen, Shenzhen 518000, China; Institute of Microbiology, Chinese Academy of Sciences, Beijing 100101, ChinaGeneplus–Beijing, Beijing 102206, ChinaGeneplus–Beijing, Beijing 102206, ChinaNational Institutes for Food and Drug Control, Beijing 100050, ChinaState Key Laboratory of Genetic Engineering, Human Phenome Institute, School of Life Sciences, Fudan University, Shanghai 200438, ChinaDepartment of Pathology, Fudan University Shanghai Cancer Center, Shanghai 200032, ChinaDepartment 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, ChinaDepartment 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; Corresponding author.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.http://www.sciencedirect.com/science/article/pii/S1672022923000360DNA damage responseHomologous recombination repair deficiencyPoly(ADP-ribose) polymerase inhibitorBiomarkerHarmonization |
spellingShingle | Wenbin Li Lin Gao Xin Yi Shuangfeng Shi Jie Huang Leming Shi Xiaoyan Zhou Lingying Wu Jianming Ying Patient Assessment and Therapy Planning Based on Homologous Recombination Repair Deficiency Genomics, Proteomics & Bioinformatics DNA damage response Homologous recombination repair deficiency Poly(ADP-ribose) polymerase inhibitor Biomarker Harmonization |
title | Patient Assessment and Therapy Planning Based on Homologous Recombination Repair Deficiency |
title_full | Patient Assessment and Therapy Planning Based on Homologous Recombination Repair Deficiency |
title_fullStr | Patient Assessment and Therapy Planning Based on Homologous Recombination Repair Deficiency |
title_full_unstemmed | Patient Assessment and Therapy Planning Based on Homologous Recombination Repair Deficiency |
title_short | Patient Assessment and Therapy Planning Based on Homologous Recombination Repair Deficiency |
title_sort | patient assessment and therapy planning based on homologous recombination repair deficiency |
topic | DNA damage response Homologous recombination repair deficiency Poly(ADP-ribose) polymerase inhibitor Biomarker Harmonization |
url | http://www.sciencedirect.com/science/article/pii/S1672022923000360 |
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