publication . Article . 2018

Pathogenic TERT promoter variants in telomere diseases

André Luiz Pinto Santos;
Open Access English
  • Published: 07 Dec 2018 Journal: Genetics in medicine : official journal of the American College of Medical Genetics, volume 21, issue 7, pages 1,594-1,602 (issn: 1098-3600, eissn: 1530-0366, Copyright policy)
Abstract
Purpose: The acquisition of pathogenic variants in the TERT promoter (TERTp) region is a mechanism of tumorigenesis. In non-malignant diseases, TERTp variants have been reported only in patients with idiopathic pulmonary fibrosis (IPF) due to germline variants in telomere-biology genes. Methods: We screened patients with a broad spectrum of telomeropathies (n = 136), their relatives (n = 52), and controls (n = 195) for TERTp variants using a customized massively parallel amplicon-based sequencing assay. Results: Pathogenic -124 and -146 TERTp variants were identified in 9 (7%) unrelated patients diagnosed with IPF (28%) or moderate aplastic anemia (4.6%); five o...
Subjects
free text keywords: Article, somatic TERT promoter variants, telomere diseases, bone marrow failure, Genetics(clinical), Aplastic anemia, medicine.disease, medicine, Gene, Telomerase, Germline, Amplicon, Telomere, Carcinogenesis, medicine.disease_cause, Genetics, business.industry, business
39 references, page 1 of 3

Greider, CW, Blackburn, EH. Identification of a specific telomere terminal transferase activity in Tetrahymena extracts. Cell. 1985; 43 (2 Pt 1): 405-413 [OpenAIRE] [PubMed] [DOI]

Calado, RT, Young, NS. Telomere diseases. N Engl J Med. 2009; 361: 2353-2365 [OpenAIRE] [PubMed] [DOI]

Kim, NW, Piatyszek, MA, Prowse, KR. Specific association of human telomerase activity with immortal cells and cancer. Science. 1994; 266: 2011-2015 [OpenAIRE] [PubMed] [DOI]

Killela, PJ, Reitman, ZJ, Jiao, Y. 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 U S A. 2013; 110: 6021-6026 [OpenAIRE] [PubMed] [DOI]

Panero, J, Alves-Paiva, RM, Roisman, A. Acquired TERT promoter mutations stimulate TERT transcription in mantle cell lymphoma. Am J Hematol. 2016; 91: 481-485 [OpenAIRE] [PubMed] [DOI]

Bell, RJ, Rube, HT, Xavier-Magalhães, A. Understanding TERT promoter mutations: a common path to immortality. Mol Cancer Res. 2016; 14: 315-323 [OpenAIRE] [PubMed] [DOI]

Scott, GA, Laughlin, TS, Rothberg, PG. Mutations of the TERT promoter are common in basal cell carcinoma and squamous cell carcinoma. Mod Pathol. 2014; 27: 516-523 [OpenAIRE] [PubMed] [DOI]

Heidenreich, B, Rachakonda, PS, Hosen, I. TERT promoter mutations and telomere length in adult malignant gliomas and recurrences. Oncotarget. 2015; 6: 10617-10633 [OpenAIRE] [PubMed] [DOI]

Horn, S, Figl, A, Rachakonda, PS. TERT promoter mutations in familial and sporadic melanoma. Science. 2013; 339: 959-961 [OpenAIRE] [PubMed] [DOI]

Akıncılar, SC, Khattar, E, Boon, PL, Unal, B, Fullwood, MJ, Tergaonkar, V. Long-range chromatin interactions drive mutant TERT promoter activation. Cancer Discov. 2016; 6: 1276-1291 [OpenAIRE] [PubMed] [DOI]

Bell, RJ, Rube, HT, Kreig, A. Cancer. The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer. Science. 2015; 348: 1036-1039 [OpenAIRE] [PubMed] [DOI]

12.Chiba K, Johnson JZ, Vogan JM, Wagner T, Boyle JM, Hockemeyer D Cancer-associated TERT promoter mutations abrogate telomerase silencing. eLife 2015; 4: e07918. 2015 July 21; 10.7554/eLife.07918. [Epub ahead of print].

Maryoung, L, Yue, Y, Young, A. Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations. J Clin Invest. 2017; 127: 982-986 [OpenAIRE] [PubMed] [DOI]

Townsley, DM, Dumitriu, B, Young, NS. Bone marrow failure and the telomeropathies. Blood. 2014; 124: 2775-2783 [OpenAIRE] [PubMed] [DOI]

Young, NS. Current concepts in the pathophysiology and treatment of aplastic anemia. Hematol Am Soc Hematol Educ Program. 2013; 2013: 76-81 [OpenAIRE] [DOI]

39 references, page 1 of 3
Abstract
Purpose: The acquisition of pathogenic variants in the TERT promoter (TERTp) region is a mechanism of tumorigenesis. In non-malignant diseases, TERTp variants have been reported only in patients with idiopathic pulmonary fibrosis (IPF) due to germline variants in telomere-biology genes. Methods: We screened patients with a broad spectrum of telomeropathies (n = 136), their relatives (n = 52), and controls (n = 195) for TERTp variants using a customized massively parallel amplicon-based sequencing assay. Results: Pathogenic -124 and -146 TERTp variants were identified in 9 (7%) unrelated patients diagnosed with IPF (28%) or moderate aplastic anemia (4.6%); five o...
Subjects
free text keywords: Article, somatic TERT promoter variants, telomere diseases, bone marrow failure, Genetics(clinical), Aplastic anemia, medicine.disease, medicine, Gene, Telomerase, Germline, Amplicon, Telomere, Carcinogenesis, medicine.disease_cause, Genetics, business.industry, business
39 references, page 1 of 3

Greider, CW, Blackburn, EH. Identification of a specific telomere terminal transferase activity in Tetrahymena extracts. Cell. 1985; 43 (2 Pt 1): 405-413 [OpenAIRE] [PubMed] [DOI]

Calado, RT, Young, NS. Telomere diseases. N Engl J Med. 2009; 361: 2353-2365 [OpenAIRE] [PubMed] [DOI]

Kim, NW, Piatyszek, MA, Prowse, KR. Specific association of human telomerase activity with immortal cells and cancer. Science. 1994; 266: 2011-2015 [OpenAIRE] [PubMed] [DOI]

Killela, PJ, Reitman, ZJ, Jiao, Y. 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 U S A. 2013; 110: 6021-6026 [OpenAIRE] [PubMed] [DOI]

Panero, J, Alves-Paiva, RM, Roisman, A. Acquired TERT promoter mutations stimulate TERT transcription in mantle cell lymphoma. Am J Hematol. 2016; 91: 481-485 [OpenAIRE] [PubMed] [DOI]

Bell, RJ, Rube, HT, Xavier-Magalhães, A. Understanding TERT promoter mutations: a common path to immortality. Mol Cancer Res. 2016; 14: 315-323 [OpenAIRE] [PubMed] [DOI]

Scott, GA, Laughlin, TS, Rothberg, PG. Mutations of the TERT promoter are common in basal cell carcinoma and squamous cell carcinoma. Mod Pathol. 2014; 27: 516-523 [OpenAIRE] [PubMed] [DOI]

Heidenreich, B, Rachakonda, PS, Hosen, I. TERT promoter mutations and telomere length in adult malignant gliomas and recurrences. Oncotarget. 2015; 6: 10617-10633 [OpenAIRE] [PubMed] [DOI]

Horn, S, Figl, A, Rachakonda, PS. TERT promoter mutations in familial and sporadic melanoma. Science. 2013; 339: 959-961 [OpenAIRE] [PubMed] [DOI]

Akıncılar, SC, Khattar, E, Boon, PL, Unal, B, Fullwood, MJ, Tergaonkar, V. Long-range chromatin interactions drive mutant TERT promoter activation. Cancer Discov. 2016; 6: 1276-1291 [OpenAIRE] [PubMed] [DOI]

Bell, RJ, Rube, HT, Kreig, A. Cancer. The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer. Science. 2015; 348: 1036-1039 [OpenAIRE] [PubMed] [DOI]

12.Chiba K, Johnson JZ, Vogan JM, Wagner T, Boyle JM, Hockemeyer D Cancer-associated TERT promoter mutations abrogate telomerase silencing. eLife 2015; 4: e07918. 2015 July 21; 10.7554/eLife.07918. [Epub ahead of print].

Maryoung, L, Yue, Y, Young, A. Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations. J Clin Invest. 2017; 127: 982-986 [OpenAIRE] [PubMed] [DOI]

Townsley, DM, Dumitriu, B, Young, NS. Bone marrow failure and the telomeropathies. Blood. 2014; 124: 2775-2783 [OpenAIRE] [PubMed] [DOI]

Young, NS. Current concepts in the pathophysiology and treatment of aplastic anemia. Hematol Am Soc Hematol Educ Program. 2013; 2013: 76-81 [OpenAIRE] [DOI]

39 references, page 1 of 3
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publication . Article . 2018

Pathogenic TERT promoter variants in telomere diseases

André Luiz Pinto Santos;