Article
Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.
Nature communications - 30 Aug 2018
Pareja Fresia, Brandes Alissa H, Basili Thais, Selenica Pier, Geyer Felipe C, Fan Dan, Da Cruz Paula Arnaud, Kumar Rahul, Brown David N, Gularte-Mérida Rodrigo, Alemar Barbara, Bi Rui, Lim Raymond S, de Bruijn Ino, Fujisawa Sho, Gardner Rui, Feng Elvin, Li Anqi, da Silva Edaise M, Lozada John R, Blecua Pedro, Cohen-Gould Leona, Jungbluth Achim A, Rakha Emad A, Ellis Ian O, Edelweiss Maria I A, Palazzo Juan, Norton Larry, Hollmann Travis, Edelweiss Marcia, Rubin Brian P, Weigelt Britta, Reis-Filho Jorge S
Abstract excerpt
Granular cell tumors (GCTs) are rare tumors that can arise in multiple anatomical locations, and are characterized by abundant intracytoplasmic granules. The genetic drivers of GCTs are currently unknown. Here, we apply whole-exome sequencing and targeted sequencing analysis to reveal mutually exclusive, clonal, inactivating somatic mutations in the endosomal pH regulators ATP6AP1 or ATP6AP2 in 72% of GCTs....
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