Research ArticleOriginal Article
Alterations in DNA damage response and repair genes as potential biomarkers for immune checkpoint blockade in gastrointestinal cancer
Yujiao Wang, Xi Jiao, Shuang Li, Huan Chen, Xin Wei, Chang Liu, Jifang Gong, Xiaotian Zhang, Xicheng Wang, Zhi Peng, Changsong Qi, Zhenghang Wang, Yanni Wang, Na Zhuo, Jianling Zou, Henghui Zhang, Jian Li, Lin Shen and Zhihao Lu
Cancer Biology & Medicine August 2022, 19 (8) 1139-1149; DOI: https://doi.org/10.20892/j.issn.2095-3941.2020.0708
Yujiao Wang
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Xi Jiao
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Shuang Li
2Department of Gastric & Colorectal Surgery, The First Hospital of Jilin University, Changchun 130021, China
Huan Chen
3Genecast Precision Medicine Technology Institute, Beijing 100192, China
Xin Wei
4Life Sciences Institute, Zhejiang University, Hangzhou 310058, China
Chang Liu
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Jifang Gong
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Xiaotian Zhang
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Xicheng Wang
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Zhi Peng
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Changsong Qi
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Zhenghang Wang
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Yanni Wang
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Na Zhuo
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Jianling Zou
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Henghui Zhang
5Institute of Infectious Diseases, Beijing Ditan Hospital, Capital Medical University, Beijing 100015, China
Jian Li
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Lin Shen
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
Zhihao Lu
1Department of Gastrointestinal Oncology, Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education), Peking University Cancer Hospital & Institute, Beijing 100142, China
References
- 1.↵
- 2.↵Abdul-Latif M, Townsend K, Dearman C, Shiu K-K, Khan K. Immunotherapy in gastrointestinal cancer: the current scenario and future perspectives. Cancer Treat Rev. 2020; 88: 102030.
- 3.↵Bender EJN. Cancer immunotherapy. Nature. 2017; 552: S61.
- 4.↵Wang J, Reiss KA, Khatri R, Jaffee E, Laheru D. Immune Therapy in GI Malignancies: a review. J Clin Oncol. 2015; 33: 1745–53.
- 5.↵Kono K, Nakajima S, Mimura K. Current status of immune checkpoint inhibitors for gastric cancer. Gastric cancer. 2020; 23: 565–78.
- 6.↵Dudley JC, Lin M-T, Le DT, Eshleman JR. Microsatellite instability as a biomarker for PD-1 blockade. Clin Cancer Res. 2016; 22: 813–20.
- 7.↵Fuchs CS, Doi T, Jang RW, Muro K, Satoh T, Machado M, et al. Safety and efficacy of pembrolizumab monotherapy in patients with previously treated advanced gastric and gastroesophageal junction cancer: phase 2 clinical KEYNOTE-059 trial. JAMA Oncol. 2018; 4: e180013.
- 8.Huang J, Xu J, Chen Y, Zhuang W, Zhang Y, Chen Z, et al. Camrelizumab versus investigator’s choice of chemotherapy as second-line therapy for advanced or metastatic oesophageal squamous cell carcinoma (ESCORT): a multicentre, randomised, open-label, phase 3 study. Lancet Oncol. 2020; 21: 832–42.
- 9.Kato K, Cho BC, Takahashi M, Okada M, Lin CY, Chin K, et al. Nivolumab versus chemotherapy in patients with advanced oesophageal squamous cell carcinoma refractory or intolerant to previous chemotherapy (ATTRACTION-3): a multicentre, randomised, open-label, phase 3 trial. Lancet Oncol. 2019; 20: 1506–17.
- 10.Mishima S, Kawazoe A, Nakamura Y, Sasaki A, Kotani D, Kuboki Y, et al. Clinicopathological and molecular features of responders to nivolumab for patients with advanced gastric cancer. J Immunother Cancer. 2019; 7: 24.
- 11.Shah M, Adenis A, Enzinger P, Kojima T, Muro K, Bennouna J, et al. Pembrolizumab versus chemotherapy as second-line therapy for advanced esophageal cancer: phase 3 KEYNOTE-181 study. J Clin Oncol. 2019; 37: 4010.
- 12.↵Wang F, Wei XL, Wang FH, Xu N, Shen L, Dai GH, et al. Safety, efficacy and tumor mutational burden as a biomarker of overall survival benefit in chemo-refractory gastric cancer treated with toripalimab, a PD-1 antibody in phase Ib/II clinical trial NCT02915432. Ann Oncol. 2019; 30: 1479–86.
- 13.↵Maleki Vareki S. High and low mutational burden tumors versus immunologically hot and cold tumors and response to immune checkpoint inhibitors. J Immunother Cancer. 2018; 6: 157.
- 14.↵
- 15.↵
- 16.↵Vidotto T, Nersesian S, Graham C, Siemens DR, Koti M. DNA damage repair gene mutations and their association with tumor immune regulatory gene expression in muscle invasive bladder cancer subtypes. J Immunother Cancer. 2019; 7: 148.
- 17.↵Parkes EE, Walker SM, Taggart LE, McCabe N, Knight LA, Wilkinson R, et al. Activation of STING-dependent innate immune signaling by S-phase-specific DNA damage in breast cancer. J Natl Cancer Inst. 2016; 109: djw199.
- 18.↵
- 19.
- 20.
- 21.↵Teo MY, Bambury RM, Zabor EC, Jordan E, Al-Ahmadie H, Boyd ME, et al. DNA damage response and repair gene alterations are associated with improved survival in patients with platinum-treated advanced urothelial carcinoma. Clin Cancer Res. 2017; 23: 3610–8.
- 22.↵Ricciuti B, Recondo G, Spurr LF, Li YY, Lamberti G, Venkatraman D, et al. Impact of DNA damage response and repair (DDR) gene mutations on efficacy of PD-(L)1 immune checkpoint inhibition in non–small cell lung cancer. Clin Cancer Res. 2020; 26: 4135–42.
- 23.↵
- 24.↵Janjigian YY, Sanchez-Vega F, Jonsson P, Chatila WK, Hechtman JF, Ku GY, et al. Genetic predictors of response to systemic therapy in esophagogastric cancer. Cancer Discov. 2018; 8: 49–58.
- 25.↵Rizvi NA, Hellmann MD, Snyder A, Kvistborg P, Makarov V, Havel JJ, et al. Mutational landscape determines sensitivity to PD-1 blockade in non–small cell lung cancer. Science. 2015; 348: 124–8.
- 26.↵Huang WW, Zhao SH, Zhang C, Li ZW, Ge S, Lian BF, et al. Identification of “regulation of RhoA activity panel” as a prognostic and predictive biomarker for gastric cancer. Aging (Albany NY). 2020; 13: 714–34.
- 27.↵Barbie DA, Tamayo P, Boehm JS, Kim SY, Moody SE, Dunn IF, et al. Systematic RNA interference reveals that oncogenic KRAS-driven cancers require TBK1. Nature. 2009; 462: 108–12.
- 28.↵
- 29.↵Rooney MS, Shukla SA, Wu CJ, Getz G, Hacohen N. Molecular and genetic properties of tumors associated with local immune cytolytic activity. Cell. 2015; 160: 48–61.
- 30.↵
- 31.↵Chau I. Clinical development of PD-1/PD-L1 immunotherapy for gastrointestinal cancers: facts and hopes. Clin Cancer Res. 2017; 23: 6002–11.
- 32.↵Nash GM, Gimbel M, Cohen AM, Zeng ZS, Ndubuisi MI, Nathanson DR, et al. KRAS mutation and microsatellite instability: two genetic markers of early tumor development that influence the prognosis of colorectal cancer. Ann Surg Oncol. 2010; 17: 416–24.
- 33.↵
- 34.↵O’Neil BH, Wallmark JM, Lorente D, Elez E, Raimbourg J, Gomez-Roca C, et al. Safety and antitumor activity of the anti-PD-1 antibody pembrolizumab in patients with advanced colorectal carcinoma. PLoS One. 2017; 12: e0189848.
- 35.↵Sha D, Jin Z, Budczies J, Kluck K, Stenzinger A, Sinicrope FA. Tumor mutational burden as a predictive biomarker in solid tumors. Cancer Discov. 2020; 10: 1808–25.
- 36.↵
- 37.↵Zhou H, Liu J, Zhang Y, Huang Y, Shen J, Yang Y, et al. PBRM1 mutation and preliminary response to immune checkpoint blockade treatment in non-small cell lung cancer. NPJ Precis Oncol. 2020; 4: 6.
- 38.Papillon-Cavanagh S, Doshi P, Dobrin R, Szustakowski J, Walsh AM. Correction: STK11 and KEAP1 mutations as prognostic biomarkers in an observational real-world lung adenocarcinoma cohort. ESMO Open. 2020; 5: e000706corr1.
- 39.Jiao X, Wei X, Li S, Liu C, Chen H, Gong J, et al. A genomic mutation signature predicts the clinical outcomes of immunotherapy and characterizes immunophenotypes in gastrointestinal cancer. NPJ Precis Oncol. 2021; 5: 36.
- 40.Okamura R, Kato S, Lee S, Jimenez RE, Sicklick JK, Kurzrock R. ARID1A alterations function as a biomarker for longer progression-free survival after anti-PD-1/PD-L1 immunotherapy. J Immunother Cancer. 2020; 8: e000438.
- 41.↵Fan Y, Ying H, Wu X, Chen H, Hu Y, Zhang H, et al. The mutational pattern of homologous recombination (HR)-associated genes and its relevance to the immunotherapeutic response in gastric cancer. Cancer Biol Med. 2020; 17: 1002–13.
- 42.↵Parikh AR, He Y, Hong TS, Corcoran RB, Clark JW, Ryan DP, et al. Analysis of DNA damage response gene alterations and tumor mutational burden across 17,486 tubular gastrointestinal carcinomas: implications for therapy. Oncologist. 2019; 24: 1340–7.
- 43.↵Wang Z, Zhao J, Wang G, Zhang F, Zhang Z, Zhang F, et al. Comutations in DNA damage response pathways serve as potential biomarkers for immune checkpoint blockade. Cancer Res. 2018; 78: 6486–96.
- 44.↵Tian W, Shan B, Zhang Y, Ren Y, Liang S, Zhao J, et al. Association between DNA damage repair gene somatic mutations and immune-related gene expression in ovarian cancer. Cancer Med. 2020; 9: 2190–200.
- 45.↵
- 46.↵Cristescu R, Mogg R, Ayers M, Albright A, Murphy E, Yearley J, et al. Pan-tumor genomic biomarkers for PD-1 checkpoint blockade-based immunotherapy. Science. 2018; 362: eaar3593.
In this issue
Alterations in DNA damage response and repair genes as potential biomarkers for immune checkpoint blockade in gastrointestinal cancer
Yujiao Wang, Xi Jiao, Shuang Li, Huan Chen, Xin Wei, Chang Liu, Jifang Gong, Xiaotian Zhang, Xicheng Wang, Zhi Peng, Changsong Qi, Zhenghang Wang, Yanni Wang, Na Zhuo, Jianling Zou, Henghui Zhang, Jian Li, Lin Shen, Zhihao Lu
Cancer Biology & Medicine Aug 2022, 19 (8) 1139-1149; DOI: 10.20892/j.issn.2095-3941.2020.0708
Alterations in DNA damage response and repair genes as potential biomarkers for immune checkpoint blockade in gastrointestinal cancer
Yujiao Wang, Xi Jiao, Shuang Li, Huan Chen, Xin Wei, Chang Liu, Jifang Gong, Xiaotian Zhang, Xicheng Wang, Zhi Peng, Changsong Qi, Zhenghang Wang, Yanni Wang, Na Zhuo, Jianling Zou, Henghui Zhang, Jian Li, Lin Shen, Zhihao Lu
Cancer Biology & Medicine Aug 2022, 19 (8) 1139-1149; DOI: 10.20892/j.issn.2095-3941.2020.0708
Jump to section
Related Articles
- No related articles found.
Cited By...
- No citing articles found.