TERT promoter mutations are frequent in cutaneous basal cell carcinoma and squamous cell carcinoma.
Activating mutations in the TERT promoter were recently identified in up to 71% of cutaneous melanoma. Subsequent studies found TERT promoter mutations in a wide array of other major human cancers. TERT promoter mutations lead to increased expression of telomerase, which maintains telomere length an...
| Main Authors: | , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Public Library of Science (PLoS)
2013-01-01
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| Series: | PLoS ONE |
| Online Access: | http://europepmc.org/articles/PMC3832433?pdf=render |
| _version_ | 1828842519865065472 |
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| author | Klaus G Griewank Rajmohan Murali Bastian Schilling Tobias Schimming Inga Möller Iris Moll Marion Schwamborn Antje Sucker Lisa Zimmer Dirk Schadendorf Uwe Hillen |
| author_facet | Klaus G Griewank Rajmohan Murali Bastian Schilling Tobias Schimming Inga Möller Iris Moll Marion Schwamborn Antje Sucker Lisa Zimmer Dirk Schadendorf Uwe Hillen |
| author_sort | Klaus G Griewank |
| collection | DOAJ |
| description | Activating mutations in the TERT promoter were recently identified in up to 71% of cutaneous melanoma. Subsequent studies found TERT promoter mutations in a wide array of other major human cancers. TERT promoter mutations lead to increased expression of telomerase, which maintains telomere length and genomic stability, thereby allowing cancer cells to continuously divide, avoiding senescence or apoptosis. TERT promoter mutations in cutaneous melanoma often show UV-signatures. Non-melanoma skin cancer, including basal cell carcinoma and squamous cell carcinoma, are very frequent malignancies in individuals of European descent. We investigated the presence of TERT promoter mutations in 32 basal cell carcinomas and 34 cutaneous squamous cell carcinomas using conventional Sanger sequencing. TERT promoter mutations were identified in 18 (56%) basal cell carcinomas and in 17 (50%) cutaneous squamous cell carcinomas. The recurrent mutations identified in our cohort were identical to those previously described in cutaneous melanoma, and showed a UV-signature (C>T or CC>TT) in line with a causative role for UV exposure in these common cutaneous malignancies. Our study shows that TERT promoter mutations with UV-signatures are frequent in non-melanoma skin cancer, being present in around 50% of basal and squamous cell carcinomas and suggests that increased expression of telomerase plays an important role in the pathogenesis of these tumors. |
| first_indexed | 2024-12-12T20:25:11Z |
| format | Article |
| id | doaj.art-4bbf46dbbbd44de1abdea268573cdfd7 |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-12T20:25:11Z |
| publishDate | 2013-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-4bbf46dbbbd44de1abdea268573cdfd72022-12-22T00:13:09ZengPublic Library of Science (PLoS)PLoS ONE1932-62032013-01-01811e8035410.1371/journal.pone.0080354TERT promoter mutations are frequent in cutaneous basal cell carcinoma and squamous cell carcinoma.Klaus G GriewankRajmohan MuraliBastian SchillingTobias SchimmingInga MöllerIris MollMarion SchwambornAntje SuckerLisa ZimmerDirk SchadendorfUwe HillenActivating mutations in the TERT promoter were recently identified in up to 71% of cutaneous melanoma. Subsequent studies found TERT promoter mutations in a wide array of other major human cancers. TERT promoter mutations lead to increased expression of telomerase, which maintains telomere length and genomic stability, thereby allowing cancer cells to continuously divide, avoiding senescence or apoptosis. TERT promoter mutations in cutaneous melanoma often show UV-signatures. Non-melanoma skin cancer, including basal cell carcinoma and squamous cell carcinoma, are very frequent malignancies in individuals of European descent. We investigated the presence of TERT promoter mutations in 32 basal cell carcinomas and 34 cutaneous squamous cell carcinomas using conventional Sanger sequencing. TERT promoter mutations were identified in 18 (56%) basal cell carcinomas and in 17 (50%) cutaneous squamous cell carcinomas. The recurrent mutations identified in our cohort were identical to those previously described in cutaneous melanoma, and showed a UV-signature (C>T or CC>TT) in line with a causative role for UV exposure in these common cutaneous malignancies. Our study shows that TERT promoter mutations with UV-signatures are frequent in non-melanoma skin cancer, being present in around 50% of basal and squamous cell carcinomas and suggests that increased expression of telomerase plays an important role in the pathogenesis of these tumors.http://europepmc.org/articles/PMC3832433?pdf=render |
| spellingShingle | Klaus G Griewank Rajmohan Murali Bastian Schilling Tobias Schimming Inga Möller Iris Moll Marion Schwamborn Antje Sucker Lisa Zimmer Dirk Schadendorf Uwe Hillen TERT promoter mutations are frequent in cutaneous basal cell carcinoma and squamous cell carcinoma. PLoS ONE |
| title | TERT promoter mutations are frequent in cutaneous basal cell carcinoma and squamous cell carcinoma. |
| title_full | TERT promoter mutations are frequent in cutaneous basal cell carcinoma and squamous cell carcinoma. |
| title_fullStr | TERT promoter mutations are frequent in cutaneous basal cell carcinoma and squamous cell carcinoma. |
| title_full_unstemmed | TERT promoter mutations are frequent in cutaneous basal cell carcinoma and squamous cell carcinoma. |
| title_short | TERT promoter mutations are frequent in cutaneous basal cell carcinoma and squamous cell carcinoma. |
| title_sort | tert promoter mutations are frequent in cutaneous basal cell carcinoma and squamous cell carcinoma |
| url | http://europepmc.org/articles/PMC3832433?pdf=render |
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