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  • Newell, FelicityQIMR Berghofer Medical Research Institute (author)

Whole-genome landscape of mucosal melanoma reveals diverse drivers and therapeutic targets

  • Article/chapterEnglish2019

Publisher, publication year, extent ...

  • 2019-07-18
  • Springer Science and Business Media LLC,2019

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:e8a99511-b6da-408e-9275-3099f7c069a2
  • https://lup.lub.lu.se/record/e8a99511-b6da-408e-9275-3099f7c069a2URI
  • https://doi.org/10.1038/s41467-019-11107-xDOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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 and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Kong, YanPeking University Cancer Hospital (author)
  • Wilmott, James S.University of Sydney (author)
  • Johansson, Peter A.QIMR Berghofer Medical Research Institute (author)
  • Ferguson, Peter M.University of Sydney (author)
  • Cui, ChuanliangPeking University Cancer Hospital (author)
  • Li, ZhongwuPeking University Cancer Hospital (author)
  • Kazakoff, Stephen H.QIMR Berghofer Medical Research Institute (author)
  • Burke, HazelUniversity of Sydney (author)
  • Dodds, Tristan J.University of Sydney (author)
  • Patch, Ann MarieQIMR Berghofer Medical Research Institute (author)
  • Nones, KatiaQIMR Berghofer Medical Research Institute (author)
  • Tembe, VarshaUniversity of Sydney (author)
  • Shang, PingUniversity of Sydney (author)
  • van der Weyden, LouiseWellcome Trust Sanger Institute (author)
  • Wong, KimWellcome Trust Sanger Institute (author)
  • Holmes, OliverQIMR Berghofer Medical Research Institute (author)
  • Lo, SerigneUniversity of Sydney (author)
  • Leonard, ConradQIMR Berghofer Medical Research Institute (author)
  • Wood, ScottQIMR Berghofer Medical Research Institute (author)
  • Xu, QinyingQIMR Berghofer Medical Research Institute (author)
  • Rawson, Robert V.Royal Prince Alfred Hospital,University of Sydney (author)
  • Mukhopadhyay, PamelaQIMR Berghofer Medical Research Institute (author)
  • Dummer, ReinhardUniversity of Zurich,University Hospital of Zurich (author)
  • Levesque, Mitchell P.University of Zurich,University Hospital of Zurich (author)
  • Jönsson, GöranLund University,Lunds universitet,Lunds Melanomstudiegrupp,Forskargrupper vid Lunds universitet,Melanoma Genomics,Lund Melanoma Study Group,Lund University Research Groups(Swepub:lu)onk-gjo (author)
  • Wang, XuanPeking University Cancer Hospital (author)
  • Yeh, IweiUniversity of California, San Francisco,UCSF Helen Diller Family Comprehensive Cancer Center (author)
  • Wu, HongFox Chase Cancer Center (author)
  • Joseph, NancyUniversity of California, San Francisco (author)
  • Bastian, Boris C.UCSF Helen Diller Family Comprehensive Cancer Center,University of California, San Francisco (author)
  • Long, Georgina V.University of Sydney,Royal North Shore Hospital (author)
  • Spillane, Andrew J.University of Sydney (author)
  • Shannon, Kerwin F.University of Sydney (author)
  • Thompson, John F.Royal Prince Alfred Hospital,University of Sydney (author)
  • Saw, Robyn P.M.University of Sydney (author)
  • Adams, David J.Wellcome Trust Sanger Institute (author)
  • Si, LuPeking University Cancer Hospital (author)
  • Pearson, John V.QIMR Berghofer Medical Research Institute (author)
  • Hayward, Nicholas K.QIMR Berghofer Medical Research Institute (author)
  • Waddell, NicolaQIMR Berghofer Medical Research Institute (author)
  • Mann, Graham J.University of Sydney (author)
  • Guo, JunPeking University Cancer Hospital (author)
  • Scolyer, Richard A.Royal Prince Alfred Hospital,University of Sydney (author)
  • QIMR Berghofer Medical Research InstitutePeking University Cancer Hospital (creator_code:org_t)

Related titles

  • In:Nature Communications: Springer Science and Business Media LLC10:12041-1723

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