Park W, Chawla A, O’Reilly EM. Pancreatic cancer: a review. JAMA. 2021;326:851–62.

Article  PubMed  PubMed Central  Google Scholar 

Serrano PE, Cleary SP, Dhani N, et al. Improved long-term outcomes after resection of pancreatic adenocarcinoma: a comparison between two time periods. Ann Surg Oncol. 2015;22:1160–7.

Article  PubMed  Google Scholar 

Luchini C, Brosens LAA, Wood LD, et al. Comprehensive characterisation of pancreatic ductal adenocarcinoma with microsatellite instability: histology, molecular pathology, and clinical implications. Gut. 2021;70:148–56.

Article  PubMed  Google Scholar 

Lupinacci RM, Goloudina A, Buhard O, et al. Prevalence of microsatellite instability in intraductal papillary mucinous neoplasms of the pancreas. Gastroenterology. 2018;154:1061–5.

Article  PubMed  Google Scholar 

McIntyre CA, Lawrence SA, Richards AL, et al. Alterations in driver genes are predictive of survival in patients with resected pancreatic ductal adenocarcinoma. Cancer. 2020;126:3939–49.

Article  PubMed  Google Scholar 

Ordonez JE, Hester CA, Zhu H, et al. Clinicopathologic features and outcomes of early-onset pancreatic adenocarcinoma in the United States. Ann Surg Oncol. 2020;27:1997–2006.

Article  PubMed  Google Scholar 

Singhi AD, George B, Greenbowe JR, et al. Real-time targeted genome profile analysis of pancreatic ductal adenocarcinomas identifies genetic alterations that might be targeted with existing drugs or used as biomarkers. Gastroenterology. 2019;156:2242–53.

Article  PubMed  Google Scholar 

Bronner CE, Baker SM, Morrison PT, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature. 1994;368:258–61.

Article  PubMed  Google Scholar 

Fishel R, Lescoe MK, Rao MR, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell. 1993;75:1027–38.

Article  PubMed  Google Scholar 

Akiyama Y, Sato H, Yamada T, et al. Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred. Cancer Res. 1997;57:3920–3.

PubMed  Google Scholar 

Nicolaides NC, Papadopoulos N, Liu B, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature. 1994;371:75–80.

Article  PubMed  Google Scholar 

Ligtenberg MJ, Kuiper RP, Chan TL, et al. Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3’ exons of TACSTD1. Nature Genet. 2009;41:112–7. https://doi.org/10.1038/ng.283.

Article  PubMed  Google Scholar 

Han S, Chok AY, Peh DYY, et al. The distinct clinical trajectory, metastatic sites, and immunobiology of microsatellite-instability-high cancers. Front Genet. 2022;13:933475.

Article  PubMed  PubMed Central  Google Scholar 

Mensenkamp AR, Vogelaar IP, van Zelst-Stams WA, et al. Somatic mutations in MLH1 and MSH2 are a frequent cause of mismatch-repair deficiency in Lynch syndrome-like tumors. Gastroenterology. 2014;146:643–6.

Article  PubMed  Google Scholar 

Kastrinos F, Mukherjee B, Tayob N, et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA. 2009;302:1790–5.

Article  PubMed  PubMed Central  Google Scholar 

Møller P, Seppälä TT, Bernstein I, et al. Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database. Gut. 2018;67:1306–16.

Article  PubMed  Google Scholar 

André T, Shiu KK, Kim TW, et al. Pembrolizumab in microsatellite-instability-high advanced colorectal cancer. N Engl J Med. 2020;383:2207–18.

Article  PubMed  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  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  PubMed  Google Scholar 

Chakrabarti S, Bucheit L, Starr JS, et al. Detection of microsatellite instability-high (MSI-H) by liquid biopsy predicts robust and durable response to immunotherapy in patients with pancreatic cancer. J Immunother Cancer. 2022;10:e004485.

Grant RC, Selander I, Connor AA, et al. Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. Gastroenterology. 2015;148:556–64.

Article  PubMed  Google Scholar 

Hu ZI, Shia J, Stadler ZK, et al. Evaluating mismatch repair deficiency in pancreatic adenocarcinoma: challenges and recommendations. Clin Cancer Res. 2018;24:1326–36. https://doi.org/10.1158/1078-0432.Ccr-17-3099.

Article  PubMed  PubMed Central  Google Scholar 

Boland CR, Goel A. Microsatellite instability in colorectal cancer. Gastroenterology. 2010;138:2073–87.

Article  PubMed  Google Scholar 

Grant RC, Denroche R, Jang GH, et al. Clinical and genomic characterisation of mismatch repair deficient pancreatic adenocarcinoma. Gut. 2021;70:1894–903.

Article  PubMed  Google Scholar 

Yamamoto H, Itoh F, Nakamura H, et al. Genetic and clinical features of human pancreatic ductal adenocarcinomas with widespread microsatellite instability. Cancer Res. 2001;61:3139–44.

PubMed  Google Scholar 

Karamitopoulou E, Andreou A, Wenning AS, Gloor B, Perren A. High tumor mutational burden (TMB) identifies a microsatellite stable pancreatic cancer subset with prolonged survival and strong anti-tumor immunity. Eur J Cancer. 2022;169:64–73.

Article  PubMed  Google Scholar 

Zalevskaja K, Mecklin JP, Seppälä TT. Clinical characteristics of pancreatic and biliary tract cancers in Lynch syndrome: a retrospective analysis from the Finnish National Lynch Syndrome Research Registry. Front Oncol. 2023;13:1123901.

Article  PubMed  PubMed Central  Google Scholar 

Cheng DT, Mitchell TN, Zehir A, et al. Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT): a hybridization capture-based next-generation sequencing clinical assay for solid tumor molecular oncology. J Mol Diagn. 2015;17:251–64.

Article  PubMed  PubMed Central  Google Scholar 

Landrum MJ, Lee JM, Benson M, et al. ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46(D1):D1062–7.

Article  PubMed  Google Scholar 

Middha S, Zhang L, Nafa K, et al. Reliable pan-cancer microsatellite instability assessment by using targeted next-generation sequencing data. JCO Precis Oncol. 2017. https://doi.org/10.1200/PO.17.00084.

Niu B, Ye K, Zhang Q, et al. MSIsensor: microsatellite instability detection using paired tumor-normal sequence data. Bioinformatics. 2014;30:1015–6.

Article  PubMed  Google Scholar 

Cerami E, Gao J, Dogrusoz U, et al. The cBio cancer genomics portal: an open platform for exploring multidimensional cancer genomics data. Cancer Discov. 2012;2:401–4.

Article  PubMed  Google Scholar 

Gao J, Aksoy BA, Dogrusoz U, et al. Integrative analysis of complex cancer genomics and clinical profiles using the cBioPortal. Sci Signal. 2013;6:pl1.

Article  PubMed  PubMed Central  Google Scholar 

R Core Team. R: A Language and Environment for Statistical Computing. Vienna, Austria: R Foundation for Statistical Computing. 2021. https://www.R-project.org/.

Rompen IF, Levine J, Habib JR, et al. Progression of site-specific recurrence of pancreatic cancer and implications for treatment. Ann Surg. 2024;280:317–24.

Article  PubMed  Google Scholar 

Shah I, Silva-Santisteban A, Germansky KA, et al. Pancreatic cancer screening for at-risk individuals (Pancreas Scan Study): yield, harms, and outcomes from a prospective multicenter study. Am J Gastroenterol. 2023;118:1664–70.

Article  PubMed  Google Scholar 

Ratnayake B, Savastyuk AY, Nayar M, et al. Recurrence patterns for pancreatic ductal adenocarcinoma after upfront resection versus resection following neoadjuvant therapy: a comprehensive meta-analysis. J Clin Med. 2020;9:2132.

Article  PubMed  PubMed Central