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Cutaneous melanoma is associated with skin exposed to ultraviolet radiation; uveal melanoma occurs in the eyes; mucosal melanoma occurs in internal mucous membranes; and acral melanoma occurs on the palms, soles, and nail beds. Here, we present the largest whole-genome sequencing study of melanoma to date, with 570 tumors profiled, as well as methylation and RNA sequencing for subsets of tumors. Uveal melanoma is genomically distinct from other melanoma subtypes, harboring the lowest tumor mutation burden and with significantly mutated genes in the G-protein signaling pathway. Most cutaneous, acral, and mucosal melanomas share alterations in components of the MAPK, PI3K, p53, p16, and telomere pathways. However, the mechanism by which these pathways are activated or inactivated varies between melanoma subtypes. Additionally, we identify potential novel germline predisposition genes for some of the less common melanoma subtypes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Significance:<\/jats:title>\n                    <jats:p>This is the largest whole-genome analysis of melanoma to date, comprehensively comparing the genomics of the four major melanoma subtypes. This study highlights both similarities and differences between the subtypes, providing insights into the etiology and biology of melanoma.<\/jats:p>\n                    <jats:p>This article is highlighted in the In This Issue feature, p. 2711<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1158\/2159-8290.cd-22-0603","type":"journal-article","created":{"date-parts":[[2022,9,13]],"date-time":"2022-09-13T11:21:24Z","timestamp":1663068084000},"page":"2856-2879","update-policy":"https:\/\/doi.org\/10.1158\/crossmark_policy","source":"Crossref","is-referenced-by-count":114,"title":["Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes"],"prefix":"10.1158","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0469-2705","authenticated-orcid":false,"given":"Felicity","family":"Newell","sequence":"first","affiliation":[{"name":"1QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7015-5452","authenticated-orcid":false,"given":"Peter A.","family":"Johansson","sequence":"additional","affiliation":[{"name":"1QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6750-5244","authenticated-orcid":false,"given":"James S.","family":"Wilmott","sequence":"additional","affiliation":[{"name":"2Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia."},{"name":"3Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia."},{"name":"4Charles Perkins Centre, The University of Sydney, Sydney, New South Wales, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1925-5196","authenticated-orcid":false,"given":"Katia","family":"Nones","sequence":"additional","affiliation":[{"name":"1QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5025-8120","authenticated-orcid":false,"given":"Vanessa","family":"Lakis","sequence":"additional","affiliation":[{"name":"1QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5336-0454","authenticated-orcid":false,"given":"Antonia L.","family":"Pritchard","sequence":"additional","affiliation":[{"name":"1QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia."},{"name":"5Department of Genetics and Immunology, Division of Biomedical Science, University of the Highlands and Islands, Inverness, Scotland, United Kingdom."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5092-5544","authenticated-orcid":false,"given":"Serigne N.","family":"Lo","sequence":"additional","affiliation":[{"name":"2Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0655-4963","authenticated-orcid":false,"given":"Robert V.","family":"Rawson","sequence":"additional","affiliation":[{"name":"2Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia."},{"name":"3Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia."},{"name":"6Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital and NSW Health Pathology, Sydney, New South Wales, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6562-1383","authenticated-orcid":false,"given":"Stephen H.","family":"Kazakoff","sequence":"additional","affiliation":[{"name":"1QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7610-3984","authenticated-orcid":false,"given":"Andrew J.","family":"Colebatch","sequence":"additional","affiliation":[{"name":"2Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia."},{"name":"6Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital and NSW Health Pathology, Sydney, New South Wales, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4917-1375","authenticated-orcid":false,"given":"Lambros T.","family":"Koufariotis","sequence":"additional","affiliation":[{"name":"1QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8335-0406","authenticated-orcid":false,"given":"Peter M.","family":"Ferguson","sequence":"additional","affiliation":[{"name":"2Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, Australia."},{"name":"3Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia."},{"name":"6Department of Tissue Pathology and Diagnostic Oncology, Royal Prince Alfred Hospital and NSW Health Pathology, Sydney, New South Wales, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4543-8850","authenticated-orcid":false,"given":"Scott","family":"Wood","sequence":"additional","affiliation":[{"name":"1QIMR Berghofer Medical Research Institute, Brisbane, 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Queensland, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8490-5437","authenticated-orcid":false,"given":"Natasa","family":"Broit","sequence":"additional","affiliation":[{"name":"1QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia."},{"name":"8Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia."},{"name":"9Q-Gen Cell Therapeutics, Brisbane, Queensland, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2702-522X","authenticated-orcid":false,"given":"Jane M.","family":"Palmer","sequence":"additional","affiliation":[{"name":"1QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2088-2229","authenticated-orcid":false,"given":"Kasey 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Australia."},{"name":"3Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia."},{"name":"4Charles Perkins Centre, The University of Sydney, Sydney, New South Wales, Australia."},{"name":"11Mater Hospital, North Sydney, New South Wales, Australia."},{"name":"12Royal North Shore Hospital, St Leonards, New South Wales, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0991-7662","authenticated-orcid":false,"given":"Andrew P.","family":"Barbour","sequence":"additional","affiliation":[{"name":"13Diamantina Institute, The University of Queensland, Brisbane, Queensland, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2997-6413","authenticated-orcid":false,"given":"Omgo E.","family":"Nieweg","sequence":"additional","affiliation":[{"name":"2Melanoma Institute Australia, The University of Sydney, Sydney, New South Wales, 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