Somatic mutation rate and cancer: an exploratory study of mutant frequency in classical Philadelphia-negative myeloproliferative neoplasms

Oncogenesis is tightly related to the occurrence of somatic mutations. Somatic mutations are constantly produced by DNA replication processes, as the activity of DNA polymerases and DNA repair systems is highly efficient, but not perfect. The great part of spontaneous somatic mutations is irrelevant to cancer, but a very small fraction of them is oncogenic. Therefore, the individual predisposition to develop somatic mutations may be considered as a risk factor for tumor development. In order to investigate whether there is any association between the rate of occurrence of somatic mutations and the individual risk of developing cancer, we used the flow cytometry PIGA mutant assay to measure the mutant frequency in peripheral blood granulocytes of 177 healthy subjects and of a cohort of 195 patients affected by Philadelphia-negative classical MPN.