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Title: Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma
Authors: Leanne De Kock
Barbara Rivera
Timothée Revil
Paul Thorner
Catherine Goudie
Dorothée Bouron-Dal Soglio
Catherine S. Choong
John R. Priest
Paul J. Van Diest
Jantima Tanboon
Anja Wagner
Jiannis Ragoussis
Peter F.M. Choong
William D. Foulkes
McGill University
Lady Davis Institute for Medical Research
Hospital for Sick Children University of Toronto
University of Toronto
University of Montreal
Princess Margaret Hospital for Children
University of Western Australia
University Medical Center Utrecht
Faculty of Medicine, Siriraj Hospital, Mahidol University
Mahidol University
Erasmus University Medical Center
University of Melbourne
Centre Universitaire de Santé McGill, Institut de Recherche
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 6-Jun-2017
Citation: British Journal of Cancer. Vol.116, No.12 (2017), 1621-1626
Abstract: © 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.
ISSN: 15321827
Appears in Collections:Scopus 2016-2017

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