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Yamaguchi, K., Furukawa, Y. Response to the correspondence referring to our article “Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient” by Pilar Mur, Claire Palles, Ian Tomlinson, Laura Valle. J Hum Genet 65, 515–516 (2020). https://doi.org/10.1038/s10038-020-0752-8