TERT Promoter Mutations in Familial and Sporadic Melanoma
Abstract
Promoter Mutations and Cancer: Cancer genome sequencing projects have highlighted the pathogenic role of recurrent mutations within the protein-coding regions of genes. Now, two studies suggest that the scope of mutations in human tumors extends to gene regulatory regions. In a study of 70 melanomas, Huang et al. (p. 957 , published online 24 January) found that 71% harbored one of two specific mutations in the promoter region of TERT , the gene coding for the catalytic subunit of telomerase, the enzyme that caps chromosome ends. Independently, Horn et al. (p. 959 , published online 24 January) identified a disease-segregating germline mutation in the TERT promoter in a family predisposed to melanoma and found additional TERT promoter mutations in a high percentage of sporadic melanomas and melanoma cell lines. The mutations in both studies generated new binding sites for specific transcription factors and, in reporter assays, caused an increase in transcription.
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A large melanoma-prone family study identified an activating TERT promoter mutation that co-segregates with disease predisposition.
“A linkage analysis and high-throughput sequencing identified an activating mutation in the TERT promoter that co-segregates with disease predisposition.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [58]
Activating mutations in the TERT promoter in several cancer types strongly argue that those tumours were selected for telomerase activation.
“The recent identification of activating mutations in the TERT promoter in several cancer types argues strongly that these tumours had undergone selection for the activation of telomerase57,58.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [58]
Tissues expressing ETS transcription factors are predicted to maintain telomerase activity and telomere length, disrupting the telomere tumour suppressor pathway.
“Thus, tissues that express ETS transcription factors are predicted to maintain telomerase activity, presumably resulting in the maintenance of telomere length and the consequent disruption of the telomere tumour suppressor pathway.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [58]
The melanoma-predisposing TERT promoter mutation creates a binding motif for ETS transcription factors.
“This mutation (T>G; 57 bp upstream of the transcription start site) creates a binding motif for ETS (E26 transformation-specific) transcription factors.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [58]
Telomerase activation is often accomplished through mutations in the TERT promoter.
“Telomerase activation is often accomplished through mutations in the TERT promoter57,58.”
From Telomeres in cancer: tumour suppression and genome instability (2017) · cites this paper as [58]
Mutations that increase expression of telomerase reverse transcriptase (TERT) by two-fold cause large increases in risks of certain cancers.
“Mutations that increase expression of telomerase reverse transcriptase (TERT; the catalytic subunit of telomerase) by two-fold, cause large increases in risks of certain cancers (Horn et al., 2013; Huang et al., 2013).”
From Psychiatric disorders and leukocyte telomere length: Underlying mechanisms linking mental illness with cellular aging (2015) · cites this paper as Horn et al., 2013
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- Authors
- Horn, S., Figl, A., Rachakonda, P. S., Fischer, C., Sucker, A., Gast, A., Kadel, S., Moll, I., Nagore, E., Hemminki, K., Schadendorf, D., & Kumar, R.
- Affiliations
- German Cancer Research Center (DE)
- Heidelberg University (DE)
- Essen University Hospital (DE)
- Fundación Instituto Valenciano de Oncología (ES)
- Corresponding author
- Schadendorf, Dirk
- Kumar, Rajiv
- ORCID
- Venue
- Science
- Published
- 2013-02-22
- Volume
- 339
- Issue
- 6122
- Pages
- 959-961
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2030209169
- Cited by
- 1,799
- References
- 30
- Citations by year
- 2026: 64 · 2025: 75 · 2024: 90 · 2023: 123 · 2022: 121 · 2021: 135 · 2020: 170 · 2019: 123 · 2018: 165 · 2017: 174 · 2016: 179 · 2015: 160 · 2014: 137 · 2013: 77 · 2012: 1
- FWCI
- 82.50
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Lund University Publications (Lund University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Melanoma and MAPK Pathways
- Health Sciences › Medicine › Physiology › Telomeres, Telomerase, and Senescence
- Health Sciences › Medicine › Oncology › Cutaneous Melanoma Detection and Management
- Keywords
- TERT promoter mutation, cutaneous melanoma, familial melanoma, germline mutations, telomerase reverse transcriptase, ETS transcription factors, ternary complex factor, transcriptional activation, somatic mutations, metastatic melanoma, primary melanoma, transcription factor binding motifs
- MeSH terms
- Binding Sites, Female, Humans, Male, Melanoma, Pedigree, Promoter Regions, Genetic, Skin Neoplasms, Transcription, Genetic, Gene Expression Regulation, Neoplastic, Sequence Analysis, DNA, Germ-Line Mutation, Telomerase, Polymorphism, Single Nucleotide, Transcription Initiation Site, Cell Line, Tumor, Proto-Oncogene Proteins c-ets, ets-Domain Protein Elk-1, ets-Domain Protein Elk-4, High-Throughput Nucleotide Sequencing
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