Sung H, Ferlay J, Siegel RL, et al. Global cancer statistics 2020: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries. CA Cancer J Clin. 2021;71:209–49.

Article  PubMed  Google Scholar 

Cancer Genome Atlas Research Network. Comprehensive molecular characterization of gastric adenocarcinoma. Nature. 2014;513:202–9.

Article  Google Scholar 

Cristescu R, Lee J, Nebozhyn M, et al. Molecular analysis of gastric cancer identifies subtypes associated with distinct clinical outcomes. Nat Med. 2015;21:449–56.

Article  CAS  PubMed  Google Scholar 

Boland CR, Thibodeau SN, Hamilton SR, et al. A national cancer institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res. 1998;58:5248–57.

CAS  PubMed  Google Scholar 

Fearon ER, Vogelstein B. A genetic model for colorectal tumorigenesis. Cell. 1990;61:759–67.

Article  CAS  PubMed  Google Scholar 

Ooki A, Shinozaki E, Yamaguchi K. Immunotherapy in colorectal cancer: current and future strategies. J Anus Rectum Colon. 2021;5:11–24.

Article  PubMed  PubMed Central  Google Scholar 

Le DT, Uram JN, Wang H, et al. PD-1 Blockade in tumors with mismatch-repair deficiency. N Engl J Med. 2015;372:2509–20.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Maio M, Ascierto PA, Manzyuk L, et al. Pembrolizumab in microsatellite instability high or mismatch repair deficient cancers: updated analysis from the phase II KEYNOTE-158 study. Ann Oncol. 2022;33:929–38.

Article  CAS  PubMed  Google Scholar 

Marabelle A, Le DT, Ascierto PA, et al. Efficacy of pembrolizumab in patients with noncolorectal high microsatellite instability/mismatch repair-deficient cancer: results from the phase II KEYNOTE-158 study. J Clin Oncol. 2020;38:1–10.

Article  CAS  PubMed  Google Scholar 

Kim ST, Cristescu R, Bass AJ, et al. Comprehensive molecular characterization of clinical responses to PD-1 inhibition in metastatic gastric cancer. Nat Med. 2018;24:1449–58.

Article  CAS  PubMed  Google Scholar 

Le DT, Durham JN, Smith KN, et al. Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science. 2017;357:409–13.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chao J, Fuchs CS, Shitara K, et al. Assessment of pembrolizumab therapy for the treatment of microsatellite instability-high gastric or gastroesophageal junction cancer among patients in the KEYNOTE-059, KEYNOTE-061, and KEYNOTE-062 clinical trials. JAMA Oncol. 2021;7:895–902.

Article  PubMed  PubMed Central  Google Scholar 

Fuchs CS, Doi T, Jang RW, 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.

Article  PubMed  PubMed Central  Google Scholar 

Janjigian YY, Bendell J, Calvo E, et al. CheckMate-032 study: efficacy and safety of nivolumab and nivolumab plus ipilimumab in patients with metastatic esophagogastric cancer. J Clin Oncol. 2018;36:2836–44.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ott PA, Le DT, Kim JW, et al. Nivolumab (NIVO) in patients (pts) with advanced (adv) chemotherapy-refractory (CT-Rx) esophagogastric (EG) cancer according to microsatellite instability (MSI) status: checkmate 032. Ann Oncol. 2017;28:v229–30.

Article  Google Scholar 

Kwon M, An M, Klempner SJ, et al. Determinants of response and intrinsic resistance to PD-1 blockade in microsatellite instability-high gastric cancer. Cancer Discov. 2021;11:2168–85.

Article  CAS  PubMed  Google Scholar 

Andre T, Berton D, Curigliano G, et al. Safety and efficacy of anti–PD-1 antibody dostarlimab in patients (pts) with mismatch repair-deficient (dMMR) solid cancers: results from GARNET study. J Clin Oncol. 2021;39:9–9.

Article  Google Scholar 

Li J, Deng Y, Zhang W, et al. Subcutaneous envafolimab monotherapy in patients with advanced defective mismatch repair/microsatellite instability high solid tumors. J Hematol Oncol. 2021;14:95.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Moehler M, Dvorkin M, Boku N, et al. Phase III trial of avelumab maintenance after first-line induction chemotherapy versus continuation of chemotherapy in patients with gastric cancers: results from JAVELIN gastric 100. J Clin Oncol. 2021;39:966–77.

Article  CAS  PubMed  Google Scholar 

Ottini L, Falchetti M, Lupi R, et al. Patterns of genomic instability in gastric cancer: clinical implications and perspectives. Ann Oncol. 2006;17(Suppl 7):vii97-102.

Article  PubMed  Google Scholar 

Latham A, Srinivasan P, Kemel Y, et al. Microsatellite instability is associated with the presence of lynch syndrome pan-cancer. J Clin Oncol. 2019;37:286–95.

Article  CAS  PubMed  Google Scholar 

Wu MS, Lee CW, Shun CT, et al. Distinct clinicopathologic and genetic profiles in sporadic gastric cancer with different mutator phenotypes. Genes Chromosomes Cancer. 2000;27:403–11.

Article  CAS  PubMed  Google Scholar 

von Loga K, Woolston A, Punta M, et al. Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer. Nat Commun. 2020;11:139.

Article  Google Scholar 

Leite M, Corso G, Sousa S, et al. MSI phenotype and MMR alterations in familial and sporadic gastric cancer. Int J Cancer. 2011;128:1606–13.

Article  CAS  PubMed  Google Scholar 

Lee JH, Park SJ, Abraham SC, et al. Frequent CpG island methylation in precursor lesions and early gastric adenocarcinomas. Oncogene. 2004;23:4646–54.

Article  CAS  PubMed  Google Scholar 

Hu G, Qin L, Zhang X, Ye G, Huang T. Epigenetic silencing of the MLH1 promoter in relation to the development of gastric cancer and its use as a biomarker for patients with microsatellite instability: a systematic analysis. Cell Physiol Biochem. 2018;45:148–62.

Article  CAS  PubMed  Google Scholar 

Ye P, Shi Y, Li A. Association between hMLH1 promoter methylation and risk of gastric cancer: a meta-analysis. Front Physiol. 2018;9:368.

Article  PubMed  PubMed Central  Google Scholar 

Tran-Minh ML, Lehmann-Che J, Lambert J, et al. Prevalence and prognosis of microsatellite instability in oesogastric adenocarcinoma, NORDICAP 16–01. Clin Res Hepatol Gastroenterol. 2021;45:101691.

Article  CAS  PubMed  Google Scholar 

de Guyot D’Asnières Salins A, Tachon G, Cohen R, et al. Discordance between immunochemistry of mismatch repair proteins and molecular testing of microsatellite instability in colorectal cancer. ESMO Open. 2021;6:100120.

Article  Google Scholar 

Smyth EC, Wotherspoon A, Peckitt C, et al. Mismatch repair deficiency, microsatellite instability, and survival: an exploratory analysis of the medical research council adjuvant gastric infusional chemotherapy (MAGIC) trial. JAMA Oncol. 2017;3:1197–203.

Article  PubMed  Google Scholar 

Bonneville R, Krook MA, Kautto EA, et al. Landscape of microsatellite instability across 39 cancer types. JCO Precis Oncol. 2017;2017:PO.17.00073. https://doi.org/10.1200/PO.17.00073.

Article  PubMed  Google Scholar 

Cortes-Ciriano I, Lee S, Park WY, Kim TM, Park PJ. A molecular portrait of microsatellite instability across multiple cancers. Nat Commun. 2017;8:15180.

Article  CAS  PubMed