Alexandrov LB, Kim J, Haradhvala NJ, Huang MN, Ng T, Wu AW, Boot Y, Covington A, Gordenin KR, Bergstrom DA, Islam ENA, Lopez-Bigas SM, Klimczak N, McPherson LJ, Morganella JR, Sabarinathan S, Wheeler R, Mustonen DA, Getz V, Yu G, W (2020) The repertoire of mutational signatures in human cancer. Nature 578(7793):94–101. https://doi.org/10.1038/s41586-020-1943-3

Article  CAS  PubMed  PubMed Central  Google Scholar 

De Wind N, Dekker M, Berns A, Radman M, Riele TH (1995) Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer. Cell 82

Depristo MA, Banks E, Poplin R, Garimella KV, Maguire JR, Hartl C, Philippakis AA, Del Angel G, Rivas MA, Hanna M, McKenna A, Fennell TJ, Kernytsky AM, Sivachenko AY, Cibulskis K, Gabriel SB, Altshuler D, Daly MJ (2011) A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet 43(5):491–501. https://doi.org/10.1038/ng.806

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dietlein F, Reinhardt HC (2014) Molecular pathways: exploiting tumor-specific molecular defects in DNA repair pathways for precision cancer therapy. Clin Cancer Res 20(23):5882–5887. https://doi.org/10.1158/1078-0432.CCR-14-1165

Article  CAS  PubMed  Google Scholar 

Dietlein F, Thelen L, Reinhardt HC (2014a) Cancer-specific defects in DNA repair pathways as targets for personalized therapeutic approaches. Trends Genetics 30:326–339. https://doi.org/10.1016/j.tig.2014.06.003. (Elsevier Ltd.)

Article  CAS  Google Scholar 

Dietlein F, Thelen L, Reinhardt HC (2014b) Cancer-specific defects in DNA repair pathways as targets for personalized therapeutic approaches. Trends Genetics 30:326–339. https://doi.org/10.1016/j.tig.2014.06.003. (Elsevier Ltd.)

Article  CAS  Google Scholar 

Dingemans AMC, Früh M, Ardizzoni A, Besse B, Faivre-Finn C, Hendriks LE, Lantuejoul S, Peters S, Reguart N, Rudin CM, De Ruysscher D, Van Schil PE, Vansteenkiste J, Reck M (2021) Small-cell lung cancer: ESMO Clinical Practice guidelines for diagnosis, treatment and follow-up☆. Ann Oncol 32(7):839–853. https://doi.org/10.1016/j.annonc.2021.03.207

Article  PubMed  Google Scholar 

fda, & cder. (n.d.). Highlights of prescribing information. www.fda.gov/medwatch

Garassino MC, Gadgeel S, Speranza G, Felip E, Esteban E, Manuel OD, Hochmair MJ, Steven PF, Bischoff HG, Peled N, Grossi F, Ross JR, Reck M, Hui R, Garon EB, Kurata T et al (2023) Pembrolizumab Plus Pemetrexed and Platinum in Nonsquamous Non-small-cell Lung Cancer: 5-Year outcomes from the phase 3 KEYNOTE-189 study. J Clin Oncol 41:1992–1998. https://doi.org/10.1200/JCO.22

Article  CAS  PubMed  PubMed Central  Google Scholar 

George J, Lim JS, Jang SJ, Cun Y, Ozretia L, Kong G, Leenders F, Lu X, Fernández-Cuesta L, Bosco G, Müller C, Dahmen I, Jahchan NS, Park KS, Yang D, Karnezis AN, Vaka D, Torres A, Wang MS, Thomas RK (2015) Comprehensive genomic profiles of small cell lung cancer. Nature 524(7563):47–53. https://doi.org/10.1038/nature14664

Article  CAS  PubMed  PubMed Central  Google Scholar 

George J, Maas L, Abedpour N, Cartolano M, Kaiser L, Fischer RN, Scheel AH, Weber JP, Hellmich M, Bosco G, Volz C, Mueller C, Dahmen I, John F, Alves CP, Werr L, Panse JP, Kirschner M, Engel-Riedel W et al (2024) Evolutionary trajectories of small cell lung cancer under therapy. Nature 627(8005):880–889. https://doi.org/10.1038/s41586-024-07177-7

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hellmann MD, Callahan MK, Awad MM, Calvo E, Ascierto PA, Atmaca A, Rizvi NA, Hirsch FR, Selvaggi G, Szustakowski JD, Sasson A, Golhar R, Vitazka P, Chang H, Geese WJ, Antonia SJ (2018) Tumor Mutational Burden and Efficacy of Nivolumab Monotherapy and in combination with Ipilimumab in Small-Cell Lung Cancer. Cancer Cell 33(5):853-861e4. https://doi.org/10.1016/j.ccell.2018.04.001. (e4)

Article  CAS  PubMed  PubMed Central  Google Scholar 

Horn L, Mansfield AS, Szczęsna A, Havel L, Krzakowski M, Hochmair MJ, Huemer F, Losonczy G, Johnson ML, Nishio M, Reck M, Mok T, Lam S, Shames DS, Liu J, Ding B, Lopez-Chavez A, Kabbinavar F, Lin W, Liu SV (2018) First-line atezolizumab plus chemotherapy in extensive-stage small-cell lung cancer. N Engl J Med 379(23):2220–2229. https://doi.org/10.1056/nejmoa1809064

Article  CAS  PubMed  Google Scholar 

Ireland AS, Micinski AM, Kastner DW, Guo B, Wait SJ, Spainhower KB, Conley CC, Chen OS, Guthrie MR, Soltero D, Qiao Y, Huang X, Tarapcsák S, Devarakonda S, Chalishazar MD, Gertz J, Moser JC, Marth G, Puri S, Oliver TG (2020) MYC drives temporal evolution of small cell Lung Cancer subtypes by reprogramming neuroendocrine fate. Cancer Cell 38(1):60–78e12. https://doi.org/10.1016/j.ccell.2020.05.001

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kucherlapati MH, Lee K, Nguyen AA, Clark AB, Hou H, Rosulek A, Li H, Yang K, Fan K, Lipkin M, Bronson RT, Jelicks L, Kunkel TA, Kucherlapati R, Edelmann W (2010) An Msh2 conditional knockout mouse for studying intestinal cancer and testing anticancer agents. Gastroenterology. https://doi.org/10.1053/j.gastro.2009.11.009

Article  PubMed  Google Scholar 

Le DT, Uram JN, Wang H, Bartlett BR, Kemberling H, Eyring AD, Skora AD, Luber BS, Azad NS, Laheru D, Biedrzycki B, Donehower RC, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Duffy SM, Goldberg RM, de la Chapelle A, Diaz LA (2015) PD-1 blockade in tumors with mismatch-repair deficiency. N Engl J Med 372(26):2509–2520. https://doi.org/10.1056/nejmoa1500596

Article  CAS  PubMed  PubMed Central  Google Scholar 

Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, Wong F, Azad NS, Rucki AA, Laheru D, Donehower R, Zaheer A, Fisher GA, Crocenzi TS, Lee JJ, Diaz LA (2017) Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science 357(6349):409–413. https://doi.org/10.1126/science.aan6733

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li H, Durbin R (2009) Fast and Accurate Short Read Alignment with Burrows-Wheeler Transform. Bioinformatics (Oxford, England) 25:1754–60. https://doi.org/10.1093/bioinformatics/btp324

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu Q, Zhang J, Guo C, Wang M, Wang C, Yan Y, Sun L, Wang D, Zhang L, Yu H, Hou L, Wu C, Zhu Y, Jiang G, Zhu H, Zhou Y, Fang S, Zhang T, Hu L, Zhang P (2024) Proteogenomic characterization of small cell lung cancer identifies biological insights and subtype-specific therapeutic strategies. Cell 187(1):184–203e28. https://doi.org/10.1016/j.cell.2023.12.004

Article  CAS  PubMed  Google Scholar 

Marcus L, Lemery SJ, Keegan P, Pazdur R (2019) FDA approval summary: pembrolizumab for the treatment of microsatellite instability-high solid tumors. Clin Cancer Res 25(13):3753–3758. https://doi.org/10.1158/1078-0432.CCR-18-4070

Article  CAS  PubMed  Google Scholar 

McFadden DG, Papagiannakopoulos T, Taylor-Weiner A, Stewart C, Carter SL, Cibulskis K, Bhutkar A, McKenna A, Dooley A, Vernon A, Sougnez C, Malstrom S, Heimann M, Park J, Chen F, Farago AF, Dayton T, Shefler E, Gabriel S, Jacks T (2014) Genetic and clonal dissection of murine small cell lung carcinoma progression by genome sequencing. Cell 156(6):1298–1311. https://doi.org/10.1016/j.cell.2014.02.031

Article  CAS  PubMed  PubMed Central  Google Scholar 

Meuwissen R, Linn SC, Linnoila RI, Zevenhoven J, Mooi WJ, Berns A (2003) Induction of small cell lung cancer by somatic inactivation of both Trp53 and Rb1 in a conditional mouse model

Nicholson AG, Chansky K, Crowley J, Beyruti R, Kubota K, Turrisi A, Eberhardt WEE, Van Meerbeeck J, Rami-Porta R (2016) The international association for the study of lung cancer lung cancer staging project: proposals for the revision of the clinical and pathologic staging of small cell lung cancer in the forthcoming eighth edition of the tnm classification for lung cancer. J Thorac Oncol 11(3):300–311. https://doi.org/10.1016/j.jtho.2015.10.008

Article  PubMed  Google Scholar 

Olivares-Hernández A, Del Barco Morillo E, Parra Pérez C, Miramontes-González JP, Figuero-Pérez L, Martín-Gómez T, Escala-Cornejo R, Bellido Hernández L, González Sarmiento R, Cruz-Hernández JJ, de la Ludeña MD (2022) Influence of DNA Mismatch Repair (MMR) System in Survival and Response to Immune Checkpoint Inhibitors (ICIs) in Non-Small Cell Lung Cancer (NSCLC): retrospective analysis. Biomedicines. https://doi.org/10.3390/biomedicines10020360

Article  PubMed  PubMed Central  Google Scholar 

Oliveira AF, Bretes L, Furtado I (2019) Review of PD-1/PD-L1 inhibitors in metastatic DMMR/MSI-H colorectal cancer. Front Oncol. https://doi.org/10.3389/fonc.2019.00396. (Frontiers Media S.A.)

Article  PubMed  PubMed Central  Google Scholar 

Oser MG, MacPherson D, Oliver TG, Sage J, Park KS (2024) Genetically-engineered mouse models of small cell lung cancer: the next generation. Oncogene 43:457–469. https://doi.org/10.1038/s41388-023-02929-7. (Springer Nature)

Article  CAS  PubMed  PubMed Central  Google Scholar 

Paz-Ares L, Dvorkin M, Chen Y, Reinmuth N, Hotta K, Trukhin D, Statsenko G, Hochmair MJ, Özgüroğlu M, Ji JH, Voitko O, Poltoratskiy A, Ponce S, Verderame F