A copy number repeat polymorphism in the transactivation domain of the CEPBA gene is possibly associated with a protective effect against acquired CEBPA mutations: an analysis in 1135 patients with AML and 187 healthy controls

These results further confirm that the p.P194_H195dup is a polymorphism and illustrate the difficulties that can arise in the differentiation of genetic polymorphisms from malignancy-inducing alterations.