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Whole-genome landsc...
Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets
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- Newell, Felicity (author)
- QIMR Berghofer Medical Research Institute
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- Kong, Yan (author)
- Peking University Cancer Hospital
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- Wilmott, James S. (author)
- University of Sydney
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- Johansson, Peter A. (author)
- QIMR Berghofer Medical Research Institute
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- Ferguson, Peter M. (author)
- University of Sydney
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- Cui, Chuanliang (author)
- Peking University Cancer Hospital
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- Li, Zhongwu (author)
- Peking University Cancer Hospital
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- Kazakoff, Stephen H. (author)
- QIMR Berghofer Medical Research Institute
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- Burke, Hazel (author)
- University of Sydney
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- Dodds, Tristan J. (author)
- University of Sydney
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- Patch, Ann Marie (author)
- QIMR Berghofer Medical Research Institute
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- Nones, Katia (author)
- QIMR Berghofer Medical Research Institute
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- Tembe, Varsha (author)
- University of Sydney
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- Shang, Ping (author)
- University of Sydney
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- van der Weyden, Louise (author)
- Wellcome Trust Sanger Institute
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- Wong, Kim (author)
- Wellcome Trust Sanger Institute
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- Holmes, Oliver (author)
- QIMR Berghofer Medical Research Institute
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- Lo, Serigne (author)
- University of Sydney
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- Leonard, Conrad (author)
- QIMR Berghofer Medical Research Institute
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- Wood, Scott (author)
- QIMR Berghofer Medical Research Institute
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- Xu, Qinying (author)
- QIMR Berghofer Medical Research Institute
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- Rawson, Robert V. (author)
- Royal Prince Alfred Hospital,University of Sydney
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- Mukhopadhyay, Pamela (author)
- QIMR Berghofer Medical Research Institute
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- Dummer, Reinhard (author)
- University of Zurich,University Hospital of Zurich
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- Levesque, Mitchell P. (author)
- University of Zurich,University Hospital of Zurich
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- Jönsson, Göran (author)
- Lund University,Lunds universitet,Lunds Melanomstudiegrupp,Forskargrupper vid Lunds universitet,Melanoma Genomics,Lund Melanoma Study Group,Lund University Research Groups
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- Wang, Xuan (author)
- Peking University Cancer Hospital
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- Yeh, Iwei (author)
- University of California, San Francisco,UCSF Helen Diller Family Comprehensive Cancer Center
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- Wu, Hong (author)
- Fox Chase Cancer Center
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- Joseph, Nancy (author)
- University of California, San Francisco
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- Bastian, Boris C. (author)
- UCSF Helen Diller Family Comprehensive Cancer Center,University of California, San Francisco
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- Long, Georgina V. (author)
- University of Sydney,Royal North Shore Hospital
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- Spillane, Andrew J. (author)
- University of Sydney
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- Shannon, Kerwin F. (author)
- University of Sydney
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- Thompson, John F. (author)
- Royal Prince Alfred Hospital,University of Sydney
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- Saw, Robyn P.M. (author)
- University of Sydney
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- Adams, David J. (author)
- Wellcome Trust Sanger Institute
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- Si, Lu (author)
- Peking University Cancer Hospital
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- Pearson, John V. (author)
- QIMR Berghofer Medical Research Institute
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- Hayward, Nicholas K. (author)
- QIMR Berghofer Medical Research Institute
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- Waddell, Nicola (author)
- QIMR Berghofer Medical Research Institute
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- Mann, Graham J. (author)
- University of Sydney
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- Guo, Jun (author)
- Peking University Cancer Hospital
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- Scolyer, Richard A. (author)
- Royal Prince Alfred Hospital,University of Sydney
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(creator_code:org_t)
- 2019-07-18
- 2019
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1
- Related links:
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http://dx.doi.org/10... (free)
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https://www.nature.c...
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https://doi.org/10.1...
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Abstract
Subject headings
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- Knowledge of key drivers and therapeutic targets in mucosal melanoma is limited due to the paucity of comprehensive mutation data on this rare tumor type. To better understand the genomic landscape of mucosal melanoma, here we describe whole genome sequencing analysis of 67 tumors and validation of driver gene mutations by exome sequencing of 45 tumors. Tumors have a low point mutation burden and high numbers of structural variants, including recurrent structural rearrangements targeting TERT, CDK4 and MDM2. Significantly mutated genes are NRAS, BRAF, NF1, KIT, SF3B1, TP53, SPRED1, ATRX, HLA-A and CHD8. SF3B1 mutations occur more commonly in female genital and anorectal melanomas and CTNNB1 mutations implicate a role for WNT signaling defects in the genesis of some mucosal melanomas. TERT aberrations and ATRX mutations are associated with alterations in telomere length. Mutation profiles of the majority of mucosal melanomas suggest potential susceptibility to CDK4/6 and/or MEK inhibitors.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Newell, Felicity
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Kong, Yan
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Wilmott, James S ...
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Johansson, Peter ...
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Ferguson, Peter ...
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Cui, Chuanliang
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show more...
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Li, Zhongwu
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Kazakoff, Stephe ...
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Burke, Hazel
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Dodds, Tristan J ...
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Patch, Ann Marie
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Nones, Katia
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Tembe, Varsha
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Shang, Ping
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van der Weyden, ...
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Wong, Kim
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Holmes, Oliver
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Lo, Serigne
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Leonard, Conrad
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Wood, Scott
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Xu, Qinying
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Rawson, Robert V ...
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Mukhopadhyay, Pa ...
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Dummer, Reinhard
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Levesque, Mitche ...
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Jönsson, Göran
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Wang, Xuan
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Yeh, Iwei
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Wu, Hong
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Joseph, Nancy
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Bastian, Boris C ...
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Long, Georgina V ...
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Spillane, Andrew ...
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Shannon, Kerwin ...
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Thompson, John F ...
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Saw, Robyn P.M.
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Adams, David J.
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Si, Lu
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Pearson, John V.
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Hayward, Nichola ...
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Waddell, Nicola
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Mann, Graham J.
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Guo, Jun
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Scolyer, Richard ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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Nature Communica ...
- By the university
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Lund University