Tehran University of Medical Sciences Iranian Journal of Public Health 2251-6085 45 3 2016 03 15 346 352 Shaghayegh SABRI Dept. of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran Manouchehr KEYHANI Hematology and Oncology Research Center, Vali Asr Hospital, Tehran University of Medical Sciences, Tehran, Iran Mohammad Taghi AKBARI Dept. of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran 2016 03 15 2016 03 15 Background: Previous studies have shown that leukemogenic chromosomal translocations, including fusions between Break point Cluster Region (BCR) and Abelson (ABL) are present in the peripheral blood of healthy individuals. The aim of this study was to gain insights into the genetic alterations other than BCR-Abl translocation in molecular level, which cause chronic myeloid leukemia (CML). Methods: We performed whole-exome sequencing on four cases representative of BCR-ABL positive CML in chronic phase of the disease. Results: We did not identify any pathogenic mutation in all known genes involved in CML or other cancers in our subjects. Nevertheless, we identified polymorphisms in related genes. Conclusion: It is the first report of exome sequencing in Philadelphia chromosome positive CML patients. We did not identify any pathogenic mutation in known cancer genes in our patients who can be due to CML pathogenesis or technical limitations.     https://ijph.tums.ac.ir/index.php/ijph/article/view/6267 https://ijph.tums.ac.ir/index.php/ijph/article/download/6267/5330