Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma
© 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...
Saved in:
Main Authors: | , , , , , , , , , , , , , |
---|---|
Other Authors: | |
Format: | Article |
Published: |
2018
|
Subjects: | |
Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/41861 |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Institution: | Mahidol University |
id |
th-mahidol.41861 |
---|---|
record_format |
dspace |
spelling |
th-mahidol.418612019-03-14T15:02:52Z Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma 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 null 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 Biochemistry, Genetics and Molecular Biology © 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. 2018-12-21T06:47:25Z 2019-03-14T08:02:52Z 2018-12-21T06:47:25Z 2019-03-14T08:02:52Z 2017-06-06 Article British Journal of Cancer. Vol.116, No.12 (2017), 1621-1626 10.1038/bjc.2017.147 15321827 00070920 2-s2.0-85020388170 https://repository.li.mahidol.ac.th/handle/123456789/41861 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85020388170&origin=inward |
institution |
Mahidol University |
building |
Mahidol University Library |
continent |
Asia |
country |
Thailand Thailand |
content_provider |
Mahidol University Library |
collection |
Mahidol University Institutional Repository |
topic |
Biochemistry, Genetics and Molecular Biology |
spellingShingle |
Biochemistry, Genetics and Molecular Biology 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 Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma |
description |
© 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. |
author2 |
McGill University |
author_facet |
McGill University 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 |
format |
Article |
author |
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 |
author_sort |
Leanne De Kock |
title |
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma |
title_short |
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma |
title_full |
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma |
title_fullStr |
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma |
title_full_unstemmed |
Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma |
title_sort |
sequencing of dicer1 in sarcomas identifies biallelic somatic dicer1 mutations in an adult-onset embryonal rhabdomyosarcoma |
publishDate |
2018 |
url |
https://repository.li.mahidol.ac.th/handle/123456789/41861 |
_version_ |
1763489218973138944 |