Mosaicism in<i>HIF2A</i>-Related Polycythemia-Paraganglioma Syndrome

Abstract

Our study shows that HIF2A-related tumors are caused by postzygotic mutations occurring in early developmental stages. Potential germline mosaicism should be considered during the familial genetic counseling when an individual has been diagnosed with HIF2A-related polycythemia-paraganglioma syndrome.