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Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma

Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. Here we perform a cross-species analysis by sequencing tumor-germline pairs from 46 primary human muscosal, 65 primary canine oral and 28 primary equine melanoma cases from mucosal sites. Analysis of these data reveals re...

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Autores principales: Wong, Kim, van der Weyden, Louise, Schott, Courtney R., Foote, Alastair, Constantino-Casas, Fernando, Smith, Sionagh, Dobson, Jane M., Murchison, Elizabeth P., Wu, Hong, Yeh, Iwei, Fullen, Douglas R., Joseph, Nancy, Bastian, Boris C., Patel, Rajiv M., Martincorena, Inigo, Robles-Espinoza, Carla Daniela, Iyer, Vivek, Kuijjer, Marieke L., Arends, Mark J., Brenn, Thomas, Harms, Paul W., Wood, Geoffrey A., Adams, David J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341101/
https://www.ncbi.nlm.nih.gov/pubmed/30664638
http://dx.doi.org/10.1038/s41467-018-08081-1
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author Wong, Kim
van der Weyden, Louise
Schott, Courtney R.
Foote, Alastair
Constantino-Casas, Fernando
Smith, Sionagh
Dobson, Jane M.
Murchison, Elizabeth P.
Wu, Hong
Yeh, Iwei
Fullen, Douglas R.
Joseph, Nancy
Bastian, Boris C.
Patel, Rajiv M.
Martincorena, Inigo
Robles-Espinoza, Carla Daniela
Iyer, Vivek
Kuijjer, Marieke L.
Arends, Mark J.
Brenn, Thomas
Harms, Paul W.
Wood, Geoffrey A.
Adams, David J.
author_facet Wong, Kim
van der Weyden, Louise
Schott, Courtney R.
Foote, Alastair
Constantino-Casas, Fernando
Smith, Sionagh
Dobson, Jane M.
Murchison, Elizabeth P.
Wu, Hong
Yeh, Iwei
Fullen, Douglas R.
Joseph, Nancy
Bastian, Boris C.
Patel, Rajiv M.
Martincorena, Inigo
Robles-Espinoza, Carla Daniela
Iyer, Vivek
Kuijjer, Marieke L.
Arends, Mark J.
Brenn, Thomas
Harms, Paul W.
Wood, Geoffrey A.
Adams, David J.
author_sort Wong, Kim
collection PubMed
description Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. Here we perform a cross-species analysis by sequencing tumor-germline pairs from 46 primary human muscosal, 65 primary canine oral and 28 primary equine melanoma cases from mucosal sites. Analysis of these data reveals recurrently mutated driver genes shared between species such as NRAS, FAT4, PTPRJ, TP53 and PTEN, and pathogenic germline alleles of BRCA1, BRCA2 and TP53. We identify a UV mutation signature in a small number of samples, including human cases from the lip and nasal mucosa. A cross-species comparative analysis of recurrent copy number alterations identifies several candidate drivers including MDM2, B2M, KNSTRN and BUB1B. Comparison of somatic mutations in recurrences and metastases to those in the primary tumor suggests pervasive intra-tumor heterogeneity. Collectively, these studies suggest a convergence of some genetic changes in mucosal melanomas between species but also distinctly different paths to tumorigenesis.
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spelling pubmed-63411012019-01-23 Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma Wong, Kim van der Weyden, Louise Schott, Courtney R. Foote, Alastair Constantino-Casas, Fernando Smith, Sionagh Dobson, Jane M. Murchison, Elizabeth P. Wu, Hong Yeh, Iwei Fullen, Douglas R. Joseph, Nancy Bastian, Boris C. Patel, Rajiv M. Martincorena, Inigo Robles-Espinoza, Carla Daniela Iyer, Vivek Kuijjer, Marieke L. Arends, Mark J. Brenn, Thomas Harms, Paul W. Wood, Geoffrey A. Adams, David J. Nat Commun Article Mucosal melanoma is a rare and poorly characterized subtype of human melanoma. Here we perform a cross-species analysis by sequencing tumor-germline pairs from 46 primary human muscosal, 65 primary canine oral and 28 primary equine melanoma cases from mucosal sites. Analysis of these data reveals recurrently mutated driver genes shared between species such as NRAS, FAT4, PTPRJ, TP53 and PTEN, and pathogenic germline alleles of BRCA1, BRCA2 and TP53. We identify a UV mutation signature in a small number of samples, including human cases from the lip and nasal mucosa. A cross-species comparative analysis of recurrent copy number alterations identifies several candidate drivers including MDM2, B2M, KNSTRN and BUB1B. Comparison of somatic mutations in recurrences and metastases to those in the primary tumor suggests pervasive intra-tumor heterogeneity. Collectively, these studies suggest a convergence of some genetic changes in mucosal melanomas between species but also distinctly different paths to tumorigenesis. Nature Publishing Group UK 2019-01-21 /pmc/articles/PMC6341101/ /pubmed/30664638 http://dx.doi.org/10.1038/s41467-018-08081-1 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Wong, Kim
van der Weyden, Louise
Schott, Courtney R.
Foote, Alastair
Constantino-Casas, Fernando
Smith, Sionagh
Dobson, Jane M.
Murchison, Elizabeth P.
Wu, Hong
Yeh, Iwei
Fullen, Douglas R.
Joseph, Nancy
Bastian, Boris C.
Patel, Rajiv M.
Martincorena, Inigo
Robles-Espinoza, Carla Daniela
Iyer, Vivek
Kuijjer, Marieke L.
Arends, Mark J.
Brenn, Thomas
Harms, Paul W.
Wood, Geoffrey A.
Adams, David J.
Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma
title Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma
title_full Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma
title_fullStr Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma
title_full_unstemmed Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma
title_short Cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma
title_sort cross-species genomic landscape comparison of human mucosal melanoma with canine oral and equine melanoma
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341101/
https://www.ncbi.nlm.nih.gov/pubmed/30664638
http://dx.doi.org/10.1038/s41467-018-08081-1
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