{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Cisarova K"],"funding":["Swiss National Science Foundation","Fond'action contre le Cancer"],"pagination":["e1009201"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC7775126"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(12)"],"pubmed_abstract":["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 tu"],"journal":["PLoS genetics"],"pubmed_title":["Genomic and transcriptomic landscape of conjunctival melanoma."],"pmcid":["PMC7775126"],"funding_grant_id":["176097"],"pubmed_authors":["Zografos L","Leyvraz S","Nicolas M","Schalenbourg A","Rimoldi D","Riggi N","Moulin AP","Peter VG","Cisarova K","Pescini-Gobert R","Folcher M","Rivolta C","El Zaoui I","Royer-Bertrand B"],"additional_accession":[]},"is_claimable":false,"name":"Genomic and transcriptomic landscape of conjunctival melanoma.","description":"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 tu","dates":{"release":"2020-01-01T00:00:00Z","publication":"2020 Dec","modification":"2026-05-04T19:45:16.143Z","creation":"2021-02-20T21:36:53Z"},"accession":"S-EPMC7775126","cross_references":{"pubmed":["33383577"],"doi":["10.1371/journal.pgen.1009201"]}}