publication . Other literature type . Article . 2013

Frequency of TERT promoter mutations in human cancers

João Vinagre; Ana Almeida; Helena Pópulo; Rui Batista; Joana Lyra; Vasco Pinto; Ricardo Coelho; Ricardo Celestino; Hugo Prazeres; Luis Lima; ...
  • Published: 26 Jul 2013
  • Publisher: Springer Science and Business Media LLC
Abstract
Reactivation of telomerase has been implicated in human tumorigenesis, but the underlying mechanisms remain poorly understood. Here we report the presence of recurrent somatic mutations in the TERT promoter in cancers of the central nervous system (43%), bladder (59%), thyroid (follicular cell-derived, 10%) and skin (melanoma, 29%). In thyroid cancers, the presence of TERT promoter mutations (when occurring together with BRAF mutations) is significantly associated with higher TERT mRNA expression, and in glioblastoma we find a trend for increased telomerase expression in cases harbouring TERT promoter mutations. Both in thyroid cancers and glioblastoma, TERT pro...
Subjects
free text keywords: Science & Technology, Adolescent, Adult, Age Factors, Aged, Aged 80 and over, Cell Line, Tumor, Cell Transformation Neoplastic/genetics, Cell Transformation Neoplastic/pathology, Child, Female, Gene Expression Regulation Neoplastic, Humans, Male, Middle Aged, Mutation Rate, Neoplasms/genetics, Neoplasms/pathology, Promoter Regions Genetic, Telomerase/genetics, General Biochemistry, Genetics and Molecular Biology, General Physics and Astronomy, General Chemistry, Biology, Tert promoter mutation, Molecular biology, Christian ministry, Portuguese, language.human_language, language, Functional testing (manufacturing), Genetics
Funded by
FCT| PIC/IC/83037/2007
Project
PIC/IC/83037/2007
Mapping of genes predisposing to familial thyroid tumours
  • Funder: Fundação para a Ciência e a Tecnologia, I.P. (FCT)
  • Project Code: 83037
  • Funding stream: 5646-ICCMS
,
FCT| SFRH/BD/79135/2011
Project
SFRH/BD/79135/2011
AN APPROACH TO THYROID CANCER TARGETED-THERAPY USING TRANSGENIC ZEBRAFISH AS A MODEL
  • Funder: Fundação para a Ciência e a Tecnologia, I.P. (FCT)
  • Project Code: SFRH/BD/79135/2011
  • Funding stream: SFRH | Doutoramento
,
FCT| SFRH/BPD/85249/2012
Project
SFRH/BPD/85249/2012
NEW THERAPIES AND THERAPY BIOMARKERS FOR MELANOMA
  • Funder: Fundação para a Ciência e a Tecnologia, I.P. (FCT)
  • Project Code: SFRH/BPD/85249/2012
  • Funding stream: SFRH | Pós-Doutoramento
19 references, page 1 of 2

1. Horn, S. et al. TERT promoter mutations in familial and sporadic melanoma. Science 339, 959-961 (2013).

2. Huang, F. W. et al. Highly recurrent TERT promoter mutations in human melanoma. Science 339, 957-959 (2013).

3. Killela, P. J. et al. TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proc. Natl Acad. Sci. USA 110, 6021-6026 (2013). [OpenAIRE]

4. Van Raamsdonk, C. D. et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 457, 599-602 (2009).

5. Populo, H., Vinagre, J., Lopes, J. M. & Soares, P. Analysis of GNAQ mutations, proliferation and MAPK pathway activation in uveal melanomas. Br. J. Ophthalmol. 95, 715-719 (2011). [OpenAIRE]

6. Populo, H., Soares, P., Rocha, A. S., Silva, P. & Lopes, J. M. Evaluation of the mTOR pathway in ocular (uvea and conjunctiva) melanoma. Melanoma Res. 20, 107-117 (2010).

7. Lotsch, D. et al. Prognostic significance of telomerase-associated parameters in glioblastoma: effect of patient age. Neuro. Oncol. 15, 423-432 (2013). [OpenAIRE]

8. Soares, P. et al. Genetic alterations in poorly differentiated and undifferentiated thyroid carcinomas. Curr. Genomics 12, 609-617 (2011). [OpenAIRE]

9. Capezzone, M. et al. Telomere length in neoplastic and nonneoplastic tissues of patients with familial and sporadic papillary thyroid cancer. J. Clin. Endocrinol. Metab. 96, E1852-E1856 (2011).

10. Sanchini, M. A. et al. Relevance of urine telomerase in the diagnosis of bladder cancer. JAMA 294, 2052-2056 (2005). [OpenAIRE]

11. Edge, S. B. et al. AJCC Cancer Staging Manual (Springer, 2010).

12. DeLellis, R. A., L.R., Heitz, P. U. & Eng, C. (eds) World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Endocrine Glands (IARC Press, 2004).

13. Kleihues, P. & Cavenee, W. K. Pathology and Genetics of Tumours of the Nervous System (IARC Press, 2000).

14. Louis, D. N. et al. The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol. 114, 97-109 2007. [OpenAIRE]

15. Sauter, G. et al. in WHO Classification of Tumors. Pathology and Genetics of Tumors of the Urinary System and Male Genital Organs. (eds Eble, J.N., Sauter, G., Epstein, J.I. & Sesterhenn, I.A.) (IARC Press, 2004).

19 references, page 1 of 2
Abstract
Reactivation of telomerase has been implicated in human tumorigenesis, but the underlying mechanisms remain poorly understood. Here we report the presence of recurrent somatic mutations in the TERT promoter in cancers of the central nervous system (43%), bladder (59%), thyroid (follicular cell-derived, 10%) and skin (melanoma, 29%). In thyroid cancers, the presence of TERT promoter mutations (when occurring together with BRAF mutations) is significantly associated with higher TERT mRNA expression, and in glioblastoma we find a trend for increased telomerase expression in cases harbouring TERT promoter mutations. Both in thyroid cancers and glioblastoma, TERT pro...
Subjects
free text keywords: Science & Technology, Adolescent, Adult, Age Factors, Aged, Aged 80 and over, Cell Line, Tumor, Cell Transformation Neoplastic/genetics, Cell Transformation Neoplastic/pathology, Child, Female, Gene Expression Regulation Neoplastic, Humans, Male, Middle Aged, Mutation Rate, Neoplasms/genetics, Neoplasms/pathology, Promoter Regions Genetic, Telomerase/genetics, General Biochemistry, Genetics and Molecular Biology, General Physics and Astronomy, General Chemistry, Biology, Tert promoter mutation, Molecular biology, Christian ministry, Portuguese, language.human_language, language, Functional testing (manufacturing), Genetics
Funded by
FCT| PIC/IC/83037/2007
Project
PIC/IC/83037/2007
Mapping of genes predisposing to familial thyroid tumours
  • Funder: Fundação para a Ciência e a Tecnologia, I.P. (FCT)
  • Project Code: 83037
  • Funding stream: 5646-ICCMS
,
FCT| SFRH/BD/79135/2011
Project
SFRH/BD/79135/2011
AN APPROACH TO THYROID CANCER TARGETED-THERAPY USING TRANSGENIC ZEBRAFISH AS A MODEL
  • Funder: Fundação para a Ciência e a Tecnologia, I.P. (FCT)
  • Project Code: SFRH/BD/79135/2011
  • Funding stream: SFRH | Doutoramento
,
FCT| SFRH/BPD/85249/2012
Project
SFRH/BPD/85249/2012
NEW THERAPIES AND THERAPY BIOMARKERS FOR MELANOMA
  • Funder: Fundação para a Ciência e a Tecnologia, I.P. (FCT)
  • Project Code: SFRH/BPD/85249/2012
  • Funding stream: SFRH | Pós-Doutoramento
19 references, page 1 of 2

1. Horn, S. et al. TERT promoter mutations in familial and sporadic melanoma. Science 339, 959-961 (2013).

2. Huang, F. W. et al. Highly recurrent TERT promoter mutations in human melanoma. Science 339, 957-959 (2013).

3. Killela, P. J. et al. TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. Proc. Natl Acad. Sci. USA 110, 6021-6026 (2013). [OpenAIRE]

4. Van Raamsdonk, C. D. et al. Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi. Nature 457, 599-602 (2009).

5. Populo, H., Vinagre, J., Lopes, J. M. & Soares, P. Analysis of GNAQ mutations, proliferation and MAPK pathway activation in uveal melanomas. Br. J. Ophthalmol. 95, 715-719 (2011). [OpenAIRE]

6. Populo, H., Soares, P., Rocha, A. S., Silva, P. & Lopes, J. M. Evaluation of the mTOR pathway in ocular (uvea and conjunctiva) melanoma. Melanoma Res. 20, 107-117 (2010).

7. Lotsch, D. et al. Prognostic significance of telomerase-associated parameters in glioblastoma: effect of patient age. Neuro. Oncol. 15, 423-432 (2013). [OpenAIRE]

8. Soares, P. et al. Genetic alterations in poorly differentiated and undifferentiated thyroid carcinomas. Curr. Genomics 12, 609-617 (2011). [OpenAIRE]

9. Capezzone, M. et al. Telomere length in neoplastic and nonneoplastic tissues of patients with familial and sporadic papillary thyroid cancer. J. Clin. Endocrinol. Metab. 96, E1852-E1856 (2011).

10. Sanchini, M. A. et al. Relevance of urine telomerase in the diagnosis of bladder cancer. JAMA 294, 2052-2056 (2005). [OpenAIRE]

11. Edge, S. B. et al. AJCC Cancer Staging Manual (Springer, 2010).

12. DeLellis, R. A., L.R., Heitz, P. U. & Eng, C. (eds) World Health Organization Classification of Tumours. Pathology and Genetics of Tumours of Endocrine Glands (IARC Press, 2004).

13. Kleihues, P. & Cavenee, W. K. Pathology and Genetics of Tumours of the Nervous System (IARC Press, 2000).

14. Louis, D. N. et al. The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol. 114, 97-109 2007. [OpenAIRE]

15. Sauter, G. et al. in WHO Classification of Tumors. Pathology and Genetics of Tumors of the Urinary System and Male Genital Organs. (eds Eble, J.N., Sauter, G., Epstein, J.I. & Sesterhenn, I.A.) (IARC Press, 2004).

19 references, page 1 of 2
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publication . Other literature type . Article . 2013

Frequency of TERT promoter mutations in human cancers

João Vinagre; Ana Almeida; Helena Pópulo; Rui Batista; Joana Lyra; Vasco Pinto; Ricardo Coelho; Ricardo Celestino; Hugo Prazeres; Luis Lima; ...