| Autor: |
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, Revil, Timothée, Bouron-Dal Soglio, Dorothée |
| Zdroj: |
British Journal of Cancer; 6/6/2017, Vol. 116 Issue 12, p1621-1626, 6p, 1 Diagram, 1 Chart, 1 Graph |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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