Ribas A, Hamid O, Daud A, Hodi FS, Wolchok JD, Kefford R, et al. Association of Pembrolizumab with Tumor Response and Survival among Patients with Advanced Melanoma. Jama. 2016;315(15):1600–9.
Article
CAS
Google Scholar
Robert C, Long GV, Brady B, Dutriaux C, Maio M, Mortier L, et al. Nivolumab in previously untreated melanoma without BRAF mutation. N Engl J Med. 2015;372(4):320–30.
Article
CAS
Google Scholar
Hodi FS, Chiarion-Sileni V, Gonzalez R, Grob JJ, Rutkowski P, Cowey CL, et al. Nivolumab plus ipilimumab or nivolumab alone versus ipilimumab alone in advanced melanoma (CheckMate 067): 4-year outcomes of a multicentre, randomised, phase 3 trial. Lancet Oncol. 2018;19(11):1480–92.
Article
CAS
Google Scholar
Wolchok JD, Chiarion-Sileni V, Gonzalez R, Rutkowski P, Grob JJ, Cowey CL, et al. Overall Survival with Combined Nivolumab and Ipilimumab in Advanced Melanoma. N Engl J Med. 2017;377(14):1345–56.
Article
CAS
Google Scholar
Larkin J, Chiarion-Sileni V, Gonzalez R, Grob JJ, Cowey CL, Lao CD, et al. Combined Nivolumab and Ipilimumab or monotherapy in untreated melanoma. N Engl J Med. 2015;373(1):23–34.
Article
Google Scholar
Puzanov I, Dummer R, Schachter J, Pavlick AC, Gonzalez R, Ascierto PA, et al. Efficacy based on tumor PD-L1 expression in KEYNOTE-002, a randomized comparison of pembrolizumab (pembro; MK-3475) versus chemotherapy in patients (pts) with ipilimumab-refractory (IPI-R) advanced melanoma (MEL). J Clin Oncol. 2015;33(15_suppl):3012.
Article
Google Scholar
Weber JS, D'Angelo SP, Minor D, Hodi FS, Gutzmer R, Neyns B, et al. Nivolumab versus chemotherapy in patients with advanced melanoma who progressed after anti-CTLA-4 treatment (CheckMate 037): a randomised, controlled, open-label, phase 3 trial. Lancet Oncol. 2015;16(4):375–84.
Article
CAS
Google Scholar
Madore J, Vilain RE, Menzies AM, Kakavand H, Wilmott JS, Hyman J, et al. PD-L1 expression in melanoma shows marked heterogeneity within and between patients: implications for anti-PD-1/PD-L1 clinical trials. Pigment Cell Melanoma Res. 2015;28(3):245–53.
Article
CAS
Google Scholar
Tumeh PC, Hellmann MD, Hamid O, Tsai KK, Loo KL, Gubens MA, et al. Liver metastasis and treatment outcome with anti-PD-1 monoclonal antibody in patients with melanoma and NSCLC. Cancer Immunol Res. 2017;5(5):417–24.
Article
CAS
Google Scholar
Tumeh PC, Harview CL, Yearley JH, Shintaku IP, Taylor EJ, Robert L, et al. PD-1 blockade induces responses by inhibiting adaptive immune resistance. Nature. 2014;515(7528):568–71.
Article
CAS
Google Scholar
Alexandrov LB, Nik-Zainal S, Wedge DC, Aparicio SA, Behjati S, Biankin AV, et al. Signatures of mutational processes in human cancer. Nature. 2013;500(7463):415–21.
Article
CAS
Google Scholar
Van Allen EM, Miao D, Schilling B, Shukla SA, Blank C, Zimmer L, et al. Genomic correlates of response to CTLA-4 blockade in metastatic melanoma. Science. 2015;350(6257):207–11.
Article
Google Scholar
Snyder A, Makarov V, Merghoub T, Yuan J, Zaretsky JM, Desrichard A, et al. Genetic basis for clinical response to CTLA-4 blockade in melanoma. N Engl J Med. 2014;371(23):2189–99.
Article
Google Scholar
Johnson DB, Frampton GM, Rioth MJ, Yusko E, Xu Y, Guo X, et al. Targeted next generation sequencing identifies markers of response to PD-1 blockade. Cancer Immunol Res. 2016;4(11):959–67.
Article
CAS
Google Scholar
Goodman AM, Kato S, Bazhenova L, Patel SP, Frampton GM, Miller V, et al. Tumor mutational burden as an independent predictor of response to immunotherapy in diverse cancers. Mol Cancer Ther. 2017;16(11):2598–608.
Article
CAS
Google Scholar
Hugo W, Zaretsky JM, Sun L, Song C, Moreno BH, Hu-Lieskovan S, et al. Genomic and transcriptomic features of response to anti-PD-1 therapy in metastatic melanoma. Cell. 2016;165(1):35–44.
Article
CAS
Google Scholar
Shin DS, Zaretsky JM, Escuin-Ordinas H, Garcia-Diaz A, Hu-Lieskovan S, Kalbasi A, et al. Primary resistance to PD-1 blockade mediated by JAK1/2 mutations. Cancer Discov. 2017;7(2):188–201.
Article
CAS
Google Scholar
Roh W, Chen PL, Reuben A, Spencer CN, Prieto PA, Miller JP, et al. Integrated molecular analysis of tumor biopsies on sequential CTLA-4 and PD-1 blockade reveals markers of response and resistance. Sci Transl Med. 2017;9(379):eaah3560.
Article
Google Scholar
Samstein RM, Lee CH, Shoushtari AN, Hellmann MD, Shen R, Janjigian YY, et al. Tumor mutational load predicts survival after immunotherapy across multiple cancer types. Nat Genet. 2019;51(2):202–6.
Article
CAS
Google Scholar
Lee JH, Long GV, Boyd S, Lo S, Menzies AM, Tembe V, et al. Circulating tumour DNA predicts response to anti-PD1 antibodies in metastatic melanoma. Ann Oncol. 2017;28(5):1130–6.
Article
CAS
Google Scholar
Rowe SP, Luber B, Makell M, Brothers P, Santmyer J, Schollenberger MD, et al. From validity to clinical utility: the influence of circulating tumor DNA on melanoma patient management in a real-world setting. Mol Oncol. 2018;12(10):1661–72.
Article
CAS
Google Scholar
Herbreteau G, Vallee A, Knol AC, Theoleyre S, Quereux G, Varey E, et al. Quantitative monitoring of circulating tumor DNA predicts response of cutaneous metastatic melanoma to anti-PD1 immunotherapy. Oncotarget. 2018;9(38):25265–76.
Article
Google Scholar
Buchhalter I, Rempel E, Endris V, Allgauer M, Neumann O, Volckmar AL, et al. Size matters: dissecting key parameters for panel-based tumor mutational burden (TMB) analysis. Int J Cancer. 2018;144(4):848–58.
Article
Google Scholar
Eisenhauer EA, Therasse P, Bogaerts J, Schwartz LH, Sargent D, Ford R, et al. New response evaluation criteria in solid tumours: revised RECIST guideline (version 1.1). Eur Journal Cancer. 2009;45(2):228–47.
Article
CAS
Google Scholar
Kent WJ, Sugnet CW, Furey TS, Roskin KM, Pringle TH, Zahler AM, et al. The human genome browser at UCSC. Genome Res. 2002;12(6):996–1006.
Article
CAS
Google Scholar
Altschul SF, Madden TL, Schaffer AA, Zhang J, Zhang Z, Miller W, et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 1997;25(17):3389–402.
Article
CAS
Google Scholar
Whale AS, Devonshire AS, Karlin-Neumann G, Regan J, Javier L, Cowen S, et al. International Interlaboratory digital PCR study demonstrating high reproducibility for the measurement of a rare sequence variant. Anal Chem. 2017;89(3):1724–33.
Article
CAS
Google Scholar
Huggett JF, Foy CA, Benes V, Emslie K, Garson JA, Haynes R, et al. The digital MIQE guidelines: minimum information for publication of quantitative digital PCR experiments. Clin Chem. 2013;59(6):892–902.
Article
CAS
Google Scholar
Chalmers ZR, Connelly CF, Fabrizio D, Gay L, Ali SM, Ennis R, et al. Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden. Genome Med. 2017;9(1):34.
Article
Google Scholar
Spindler KL, Appelt AL, Pallisgaard N, Andersen RF, Brandslund I, Jakobsen A. Cell-free DNA in healthy individuals, noncancerous disease and strong prognostic value in colorectal cancer. Int J Cancer. 2014;135(12):2984–91.
Article
CAS
Google Scholar
Lyu GY, Yeh YH, Yeh YC, Wang YC. Mutation load estimation model as a predictor of the response to cancer immunotherapy. NPJ Genom Med. 2018;3:12.
Article
Google Scholar
Ashida A, Sakaizawa K, Uhara H, Okuyama R. Circulating tumour DNA for monitoring treatment response to anti-PD-1 immunotherapy in melanoma patients. Acta Derm Venereol. 2017;97(10):1212–8.
Article
CAS
Google Scholar
Zehir A, Benayed R, Shah RH, Syed A, Middha S, Kim HR, et al. Mutational landscape of metastatic cancer revealed from prospective clinical sequencing of 10,000 patients. Nat Med. 2017;23(6):703–13.
Article
CAS
Google Scholar
Hayward NK, Wilmott JS, Waddell N, Johansson PA, Field MA, Nones K, et al. Whole-genome landscapes of major melanoma subtypes. Nature. 2017;545(7653):175–80.
Article
CAS
Google Scholar
Furney SJ, Turajlic S, Stamp G, Thomas JM, Hayes A, Strauss D, et al. The mutational burden of acral melanoma revealed by whole-genome sequencing and comparative analysis. Pigment Cell Melanoma Res. 2014;27(5):835–8.
Article
CAS
Google Scholar
Furney SJ, Turajlic S, Stamp G, Nohadani M, Carlisle A, Thomas JM, et al. Genome sequencing of mucosal melanomas reveals that they are driven by distinct mechanisms from cutaneous melanoma. J Pathol. 2013;230(3):261–9.
Article
CAS
Google Scholar
Matsushita H, Vesely MD, Koboldt DC, Rickert CG, Uppaluri R, Magrini VJ, et al. Cancer exome analysis reveals a T-cell-dependent mechanism of cancer immunoediting. Nature. 2012;482(7385):400–4.
Article
CAS
Google Scholar
Riaz N, Morris L, Havel JJ, Makarov V, Desrichard A, Chan TA. The role of neoantigens in response to immune checkpoint blockade. Int Immunol. 2016;28(8):411–9.
Article
CAS
Google Scholar
Hellmann MD, Callahan MK, Awad MM, Calvo E, Ascierto PA, Atmaca A, et al. Tumor mutational burden and efficacy of Nivolumab monotherapy and in combination with Ipilimumab in small-cell lung Cancer. Cancer Cell. 2018;33(5):853–61 e4.
Article
CAS
Google Scholar
Morrison C, Pabla S, Conroy JM, Nesline MK, Glenn ST, Dressman D, et al. Predicting response to checkpoint inhibitors in melanoma beyond PD-L1 and mutational burden. J Immunother Cancer. 2018;6(1):32.
Article
Google Scholar
Gangadhar TC, Savitch SL, Yee SS, Xu W, Huang AC, Harmon S, et al. Feasibility of monitoring advanced melanoma patients using cell-free DNA from plasma. Pigment Cell Melanoma Res. 2018;31(1):73–81.
Article
CAS
Google Scholar
Seith F, Forschner A, Schmidt H, Pfannenberg C, Guckel B, Nikolaou K, et al. 18F-FDG-PET detects complete response to PD1-therapy in melanoma patients two weeks after therapy start. Eur J Nucl Med Mol Imaging. 2018;45(1):95–101.
Article
CAS
Google Scholar
Conforti F, Pala L, Bagnardi V, De Pas T, Martinetti M, Viale G, et al. Cancer immunotherapy efficacy and patients' sex: a systematic review and meta-analysis. Lancet Oncol. 2018;19(6):737–46.
Article
CAS
Google Scholar
Gupta S, Artomov M, Goggins W, Daly M, Tsao H. Gender disparity and mutation burden in metastatic melanoma. J Natl Cancer Inst. 2015;107(11):djv221.
Article
Google Scholar
Xiao D, Pan H, Li F, Wu K, Zhang X, He J. Analysis of ultra-deep targeted sequencing reveals mutation burden is associated with gender and clinical outcome in lung adenocarcinoma. Oncotarget. 2016;7(16):22857–64.
Article
Google Scholar
Nosrati A, Tsai KK, Goldinger SM, Tumeh P, Grimes B, Loo K, et al. Evaluation of clinicopathological factors in PD-1 response: derivation and validation of a prediction scale for response to PD-1 monotherapy. Br J Cancer. 2017;116(9):1141–7.
Article
CAS
Google Scholar
Joseph RW, Elassaiss-Schaap J, Kefford R, Hwu WJ, Wolchok JD, Joshua AM, et al. Baseline tumor size is an independent prognostic factor for overall survival in patients with melanoma treated with Pembrolizumab. Clin Cancer Res. 2018;24(20):4960–7.
CAS
PubMed
Google Scholar
Shi W, Ng CKY, Lim RS, Jiang T, Kumar S, Li X, et al. Reliability of whole-exome sequencing for assessing Intratumor genetic heterogeneity. Cell Rep. 2018;25(6):1446–57.
Article
CAS
Google Scholar
Lee JHJ, Lyle M, Menzies AM, Chan MMK, Lo S, Clements A, et al. Metastasis-specific patterns of response and progression with anti-PD-1 treatment in metastatic melanoma. Pigment Cell Melanoma Res. 2018;31(3):404–10.
Article
CAS
Google Scholar