{"entity":{"id":"paper-hayward-melanoma-whole-genome-nature-2017","kind":"paper","name":"Whole-genome landscapes of major melanoma subtypes","aka":[],"tldr":"Whole-genome sequencing of 183 melanomas showed that acral and mucosal melanomas have far fewer mutations than sun-exposed skin melanomas but many more structural rearrangements, confirming they are biologically different diseases.","summary":"Whole-genome sequencing of 183 melanomas including cutaneous, acral and mucosal subtypes, characterising mutation burden, ultraviolet signatures, structural variants, telomerase promoter alterations and driver genes.\n\nCutaneous melanomas carried a high ultraviolet-signature mutation load, whereas acral and mucosal melanomas had low point-mutation burden, frequent structural variants and amplifications (including KIT, CDK4 and CCND1), and different driver patterns.","asOf":"2026-09-17","links":[{"label":"Nature 2017","url":"https://doi.org/10.1038/nature22071"},{"label":"PubMed","url":"https://pubmed.ncbi.nlm.nih.gov/28467829/"}],"tags":[],"related":[],"cancers":["acral-melanoma","mucosal-melanoma"],"sections":[],"technologies":[],"targets":[],"drugs":[],"companies":[],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":["nature"],"dependsOn":[],"notes":[],"journal":"Nature","year":2017,"doi":"10.1038/nature22071","pmid":"28467829","authors":"Hayward NK, Wilmott JS, Waddell N, et al.","paperType":"translational","findings":["Acral and mucosal melanomas: low mutation burden, high structural variant load.","Frequent amplifications of KIT, CDK4 and CCND1 in non-sun-exposed subtypes."],"whatItMeans":"The lower response of acral and mucosal melanoma to immunotherapy and the interest in KIT and CDK4/6 inhibitors for these subtypes follow from this genomic picture.","caveats":["Relatively small numbers of acral and mucosal tumours."],"changedPractice":true,"participants":183},"route":"/key-papers/paper-hayward-melanoma-whole-genome-nature-2017/","neighbours":{"cancer":[{"id":"acral-melanoma","kind":"cancer","name":"Acral melanoma","route":"/cancers/acral-melanoma/"},{"id":"mucosal-melanoma","kind":"cancer","name":"Mucosal melanoma","route":"/cancers/mucosal-melanoma/"}],"journal":[{"id":"nature","kind":"journal","name":"Nature","route":"/journals/nature/"}]}}