{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["118(1)"],"submitter":["Hugdahl E"],"pubmed_abstract":["BACKGROUND:TERT promoter mutations are frequent in melanoma. Here we analysed the concordance and prognostic impact of TERT mutation and telomerase reverse transcriptase (TERT) protein expression in a large melanoma series. METHODS:In 194 primary nodular melanomas with 72 matched loco-regional metastases, TERT promoter mutation status was assessed by Sanger sequencing and TERT protein expression by immunohistochemistry. RESULTS:TERT mutations were found in 68% of primary melanomas and 64% of metastases, and the mutation status was discordant between primary tumour and metastasis in 24% of the cases. 6 of the 10 cases with discordant and wild-type metastases were also TERT wild type when re-tested in other intra-tumour regions, whereas 4 cases were mutation positive. TERT-mutated tumours te"],"journal":["British journal of cancer"],"pagination":["98-105"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5765228"],"repository":["biostudies-literature"],"pubmed_title":["Prognostic impact and concordance of TERT promoter mutation and protein expression in matched primary and metastatic cutaneous melanoma."],"pmcid":["PMC5765228"],"pubmed_authors":["Kalvenes MB","Mannelqvist M","Hugdahl E","Ladstein RG","Akslen LA"],"additional_accession":[]},"is_claimable":false,"name":"Prognostic impact and concordance of TERT promoter mutation and protein expression in matched primary and metastatic cutaneous melanoma.","description":"BACKGROUND:TERT promoter mutations are frequent in melanoma. Here we analysed the concordance and prognostic impact of TERT mutation and telomerase reverse transcriptase (TERT) protein expression in a large melanoma series. METHODS:In 194 primary nodular melanomas with 72 matched loco-regional metastases, TERT promoter mutation status was assessed by Sanger sequencing and TERT protein expression by immunohistochemistry. RESULTS:TERT mutations were found in 68% of primary melanomas and 64% of metastases, and the mutation status was discordant between primary tumour and metastasis in 24% of the cases. 6 of the 10 cases with discordant and wild-type metastases were also TERT wild type when re-tested in other intra-tumour regions, whereas 4 cases were mutation positive. TERT-mutated tumours te","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Jan","modification":"2025-04-04T11:29:49.734Z","creation":"2019-03-26T22:26:48Z"},"accession":"S-EPMC5765228","cross_references":{"pubmed":["29123258"],"doi":["10.1038/bjc.2017.384"]}}