Leanne De KockBarbara RiveraTimothée RevilPaul ThornerCatherine GoudieDorothée Bouron-Dal SoglioCatherine S. ChoongJohn R. PriestPaul J. Van DiestJantima TanboonAnja WagnerJiannis RagoussisPeter F.M. ChoongWilliam D. FoulkesMcGill UniversityLady Davis Institute for Medical ResearchHospital for Sick Children University of TorontoUniversity of TorontoUniversity of MontrealPrincess Margaret Hospital for ChildrenUniversity of Western AustralianullUniversity Medical Center UtrechtFaculty of Medicine, Siriraj Hospital, Mahidol UniversityMahidol UniversityErasmus University Medical CenterUniversity of MelbourneCentre Universitaire de Santé McGill, Institut de Recherche2018-12-212019-03-142018-12-212019-03-142017-06-06British Journal of Cancer. Vol.116, No.12 (2017), 1621-162615321827000709202-s2.0-85020388170https://repository.li.mahidol.ac.th/handle/20.500.14594/41861© 2017 The Author(s). Background:Sarcomas are rare and heterogeneous cancers. We assessed the contribution of DICER1 mutations to sarcoma development.Methods:The coding region of DICER1 was sequenced in 67 sarcomas using a custom Fluidigm Access Array. The RNase III domains were Sanger sequenced in six additional sarcomas to identify hotspot DICER1 variants.Results:The median age of sarcoma diagnosis was 45.7 years (range: 3 months to 87.4 years). A recurrent embryonal rhabdomyosarcoma (ERMS) of the broad ligament, first diagnosed at age 23 years, harboured biallelic pathogenic somatic DICER1 variants (1 truncating and 1 RNase IIIb missense). We identified nine other DICER1 variants. One somatic variant (p.L1070V) identified in a pleomorphic sarcoma and one germline variant (c.2257-7A>G) may be pathogenic, but the others are considered to be benign.Conclusions:We show that deleterious DICER1 mutations underlie the genetic basis of only a small fraction of sarcomas, in particular ERMS of the urogenital tract.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyArticleSCOPUS10.1038/bjc.2017.147