Article
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.
British journal of cancer - 6 Jun 2017
de Kock Leanne, Rivera Barbara, Revil Timothée, Thorner Paul, Goudie Catherine, Bouron-Dal Soglio Dorothée, Choong Catherine S, Priest John R, van Diest Paul J, Tanboon Jantima, Wagner Anja, Ragoussis Jiannis, Choong Peter Fm, Foulkes William D
Abstract excerpt
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...
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