biostudies-literatureCisarova KSwiss National Science FoundationFond'action contre le Cancere1009201https://www.ebi.ac.uk/biostudies/studies/S-EPMC7775126biostudies-literatureUnknown16(12)Conjunctival melanoma (CJM) is a rare but potentially lethal and highly-recurrent cancer of the eye. Similar to cutaneous melanoma (CM), it originates from melanocytes. Unlike CM, however, CJM is relatively poorly characterized from a genomic point of view. To fill this knowledge gap and gain insight into the genomic nature of CJM, we performed whole-exome (WES) or whole-genome sequencing (WGS) of tumor-normal tissue pairs in 14 affected individuals, as well as RNA sequencing in a subset of 11 tumor tissues. Our results show that, similarly to CM, CJM is also characterized by a very high mutation load, composed of approximately 500 somatic mutations in exonic regions. This, as well as the presence of a UV light-induced mutational signature, are clear signs of the role of sunlight in CJM tuPLoS geneticsGenomic and transcriptomic landscape of conjunctival melanoma.PMC7775126176097Zografos LLeyvraz SNicolas MSchalenbourg ARimoldi DRiggi NMoulin APPeter VGCisarova KPescini-Gobert RFolcher MRivolta CEl Zaoui IRoyer-Bertrand BfalseGenomic and transcriptomic landscape of conjunctival melanoma.Conjunctival melanoma (CJM) is a rare but potentially lethal and highly-recurrent cancer of the eye. Similar to cutaneous melanoma (CM), it originates from melanocytes. Unlike CM, however, CJM is relatively poorly characterized from a genomic point of view. To fill this knowledge gap and gain insight into the genomic nature of CJM, we performed whole-exome (WES) or whole-genome sequencing (WGS) of tumor-normal tissue pairs in 14 affected individuals, as well as RNA sequencing in a subset of 11 tumor tissues. Our results show that, similarly to CM, CJM is also characterized by a very high mutation load, composed of approximately 500 somatic mutations in exonic regions. This, as well as the presence of a UV light-induced mutational signature, are clear signs of the role of sunlight in CJM tu2020-01-01T00:00:00Z2020 Dec2026-05-04T19:45:16.143Z2021-02-20T21:36:53ZS-EPMC77751263338357710.1371/journal.pgen.1009201