| TERT Promoter Mutations in Familial and Sporadic Melanoma. | |
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MedLine Citation:
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PMID: 23348503 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Cutaneous melanoma occurs in both familial and sporadic forms. We investigated a melanoma-prone family through linkage analysis and high-throughput sequencing and identified a disease-segregating germ line mutation in the promoter of the telomerase reverse transcriptase (TERT) gene, which encodes the catalytic subunit of telomerase. The mutation creates a new binding motif for Ets/TCF transcription factors near the transcription start and in reporter gene assays, caused up to 2-fold increase in transcription. We then screened the TERT promoter in sporadic melanoma and observed recurrent UV signature somatic mutations in 125/168 (74%) of human cell lines derived from metastatic melanomas, corresponding metastatic tumor tissues (45/53, 85%) and in 25/77 (33%) primary melanomas. The majority of those mutations occurred at two positions in the TERT promoter and also generated binding motifs for ETS/TCF transcription factors. |
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Authors:
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Susanne Horn; Adina Figl; P Sivaramakrishna Rachakonda; Christine Fischer; Antje Sucker; Andreas Gast; Stephanie Kadel; Iris Moll; Eduardo Nagore; Kari Hemminki; Dirk Schadendorf; Rajiv Kumar |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2013-1-24 |
Journal Detail:
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Title: Science (New York, N.Y.) Volume: - ISSN: 1095-9203 ISO Abbreviation: Science Publication Date: 2013 Jan |
Date Detail:
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Created Date: 2013-1-25 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0404511 Medline TA: Science Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Division of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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