publication . Article . Other literature type . 2018

Telomere Maintenance Mechanisms in Cancer

Tiago Bordeira Gaspar; Ana Sá; José Manuel Lopes; Manuel Sobrinho-Simões; Paula Soares; João Vinagre;
Open Access English
  • Published: 03 May 2018 Journal: Genes (issn: 2073-4425, Copyright policy)
  • Publisher: MDPI AG
  • Country: Portugal
Abstract
Tumour cells can adopt telomere maintenance mechanisms (TMMs) to avoid telomere shortening, an inevitable process due to successive cell divisions. In most tumour cells, telomere length (TL) is maintained by reactivation of telomerase, while a small part acquires immortality through the telomerase-independent alternative lengthening of telomeres (ALT) mechanism. In the last years, a great amount of data was generated, and different TMMs were reported and explained in detail, benefiting from genome-scale studies of major importance. In this review, we address seven different TMMs in tumour cells: mutations of the TERT promoter (TERTp), amplification of the genes ...
Subjects
free text keywords: cancer, telomere, telomerase, promoter, TERT, TERC, alternative lengthening of telomeres (ALT), telomere maintenance mechanism (TMM), non-defined telomere maintenance mechanism (NDTMM), Genetics, QH426-470, Review, Genetics(clinical), Epigenetics, Malignant transformation, Patient management, Gene, Cell, medicine.anatomical_structure, medicine, Bioinformatics, Biology, medicine.disease
Related Organizations
380 references, page 1 of 26

101. Cevik, D.; Yildiz, G.; Ozturk, M. Common telomerase reverse transcriptase promoter mutations in hepatocellular carcinomas from different geographical locations. World J. Gastroenterol. 2015, 21, 311-317. [CrossRef] [PubMed]

102. Fujimoto, A.; Furuta, M.; Shiraishi, Y.; Gotoh, K.; Kawakami, Y.; Arihiro, K.; Nakamura, T.; Ueno, M.; Ariizumi, S.; Nguyen, H.H.; et al. Whole-genome mutational landscape of liver cancers displaying biliary phenotype reveals hepatitis impact and molecular diversity. Nat. Commun. 2015, 6, 6120. [CrossRef] [PubMed]

103. Schulze, K.; Imbeaud, S.; Letouze, E.; Alexandrov, L.B.; Calderaro, J.; Rebouissou, S.; Couchy, G.; Meiller, C.; Shinde, J.; Soysouvanh, F.; et al. Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets. Nat. Genet. 2015, 47, 505-511. [CrossRef] [PubMed] [OpenAIRE]

104. Lee, S.E.; Chang, S.H.; Kim, W.Y.; Lim, S.D.; Kim, W.S.; Hwang, T.S.; Han, H.S. Frequent somatic TERT promoter mutations and CTNNB1 mutations in hepatocellular carcinoma. Oncotarget 2016, 7, 69267-69275. [CrossRef] [PubMed] [OpenAIRE]

105. Pezzuto, F.; Izzo, F.; Buonaguro, L.; Annunziata, C.; Tatangelo, F.; Botti, G.; Buonaguro, F.M.; Tornesello, M.L. Tumor specific mutations in TERT promoter and CTNNB1 gene in hepatitis B and hepatitis C related hepatocellular carcinoma. Oncotarget 2016, 7, 54253-54262. [CrossRef] [PubMed] [OpenAIRE]

106. Yang, X.; Guo, X.; Chen, Y.; Chen, G.; Ma, Y.; Huang, K.; Zhang, Y.; Zhao, Q.; Winkler, C.A.; An, P.; et al. Telomerase reverse transcriptase promoter mutations in hepatitis B virus-associated hepatocellular carcinoma. Oncotarget 2016, 7, 27838-27847. [CrossRef] [PubMed] [OpenAIRE]

107. Huang, W.; Zhou, W.; Li, C.; Yang, Y.; Shang, Y.K.; Chen, C.; Zhang, J.; Yao, R.; Wang, P.; Wen, W.; et al. Promoter mutations and cellular distribution of telomerase in non-clear cell and clear cell hepatocellular carcinoma. Oncotarget 2017, 8, 26288-26297. [CrossRef] [PubMed] [OpenAIRE]

108. Lee, H.W.; Park, T.I.; Jang, S.Y.; Park, S.Y.; Park, W.J.; Jung, S.J.; Lee, J.H. Clinicopathological characteristics of TERT promoter mutation and telomere length in hepatocellular carcinoma. Medicine 2017, 96, e5766. [CrossRef] [PubMed]

109. Yuan, X.T.; Cheng, G.H.; Yu, J.Y.; Zheng, S.Z.; Sun, C.; Sun, Q.; Li, K.L.; Lin, Z.M.; Liu, T.T.; Li, P.; et al. The TERT promoter mutation incidence is modified by germline TERT rs2736098 and rs2736100 polymorphisms in hepatocellular carcinoma. Oncotarget 2017, 8, 23120-23129. [CrossRef] [PubMed] [OpenAIRE]

110. Qu, Y.; Shi, L.; Wang, D.; Zhang, B.; Yang, Q.; Ji, M.; Shi, B.; Hou, P. Low frequency of TERT promoter mutations in a large cohort of gallbladder and gastric cancers. Int. J. Cancer 2014, 134, 2993-2994. [CrossRef] [PubMed]

111. Zhao, Y.; Gao, Y.; Chen, Z.; Hu, X.; Zhou, F.; He, J. Low frequency of TERT promoter somatic mutation in 313 sporadic esophageal squamous cell carcinomas. Int. J. Cancer 2014, 134, 493-494. [CrossRef] [PubMed]

112. Van Nistelrooij, A.M.; Zwarthoff, E.C.; Post, E.; Lurkin, I.; van Marion, R.; Korpershoek, E.; Biermann, K.; Wijnhoven, B.P.; Dinjens, W.N. Absence of TERT promoter mutations in esophageal adenocarcinoma. Int. J. Cancer 2014, 134, 2014-2015. [CrossRef] [PubMed]

113. Liu, T.; Liang, X.; Bjorkholm, M.; Jia, J.; Xu, D. The absence of TERT promoter mutations in primary gastric cancer. Gene 2014, 540, 266-267. [CrossRef] [PubMed]

114. Eichenmuller, M.; Trippel, F.; Kreuder, M.; Beck, A.; Schwarzmayr, T.; Haberle, B.; Cairo, S.; Leuschner, I.; von Schweinitz, D.; Strom, T.M.; et al. The genomic landscape of hepatoblastoma and their progenies with HCC-like features. J. Hepatol. 2014, 61, 1312-1320. [CrossRef] [PubMed] [OpenAIRE]

115. Wang, N.; Liu, T.T.; Sofiadis, A.; Juhlin, C.C.; Zedenius, J.; Hoog, A.; Larsson, C.; Xu, D.W. TERT Promoter Mutation as an Early Genetic Event Activating Telomerase in Follicular Thyroid Adenoma (FTA) and Atypical FTA. Cancer 2014, 120, 2965-2979. [CrossRef] [PubMed]

380 references, page 1 of 26
Abstract
Tumour cells can adopt telomere maintenance mechanisms (TMMs) to avoid telomere shortening, an inevitable process due to successive cell divisions. In most tumour cells, telomere length (TL) is maintained by reactivation of telomerase, while a small part acquires immortality through the telomerase-independent alternative lengthening of telomeres (ALT) mechanism. In the last years, a great amount of data was generated, and different TMMs were reported and explained in detail, benefiting from genome-scale studies of major importance. In this review, we address seven different TMMs in tumour cells: mutations of the TERT promoter (TERTp), amplification of the genes ...
Subjects
free text keywords: cancer, telomere, telomerase, promoter, TERT, TERC, alternative lengthening of telomeres (ALT), telomere maintenance mechanism (TMM), non-defined telomere maintenance mechanism (NDTMM), Genetics, QH426-470, Review, Genetics(clinical), Epigenetics, Malignant transformation, Patient management, Gene, Cell, medicine.anatomical_structure, medicine, Bioinformatics, Biology, medicine.disease
Related Organizations
380 references, page 1 of 26

101. Cevik, D.; Yildiz, G.; Ozturk, M. Common telomerase reverse transcriptase promoter mutations in hepatocellular carcinomas from different geographical locations. World J. Gastroenterol. 2015, 21, 311-317. [CrossRef] [PubMed]

102. Fujimoto, A.; Furuta, M.; Shiraishi, Y.; Gotoh, K.; Kawakami, Y.; Arihiro, K.; Nakamura, T.; Ueno, M.; Ariizumi, S.; Nguyen, H.H.; et al. Whole-genome mutational landscape of liver cancers displaying biliary phenotype reveals hepatitis impact and molecular diversity. Nat. Commun. 2015, 6, 6120. [CrossRef] [PubMed]

103. Schulze, K.; Imbeaud, S.; Letouze, E.; Alexandrov, L.B.; Calderaro, J.; Rebouissou, S.; Couchy, G.; Meiller, C.; Shinde, J.; Soysouvanh, F.; et al. Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets. Nat. Genet. 2015, 47, 505-511. [CrossRef] [PubMed] [OpenAIRE]

104. Lee, S.E.; Chang, S.H.; Kim, W.Y.; Lim, S.D.; Kim, W.S.; Hwang, T.S.; Han, H.S. Frequent somatic TERT promoter mutations and CTNNB1 mutations in hepatocellular carcinoma. Oncotarget 2016, 7, 69267-69275. [CrossRef] [PubMed] [OpenAIRE]

105. Pezzuto, F.; Izzo, F.; Buonaguro, L.; Annunziata, C.; Tatangelo, F.; Botti, G.; Buonaguro, F.M.; Tornesello, M.L. Tumor specific mutations in TERT promoter and CTNNB1 gene in hepatitis B and hepatitis C related hepatocellular carcinoma. Oncotarget 2016, 7, 54253-54262. [CrossRef] [PubMed] [OpenAIRE]

106. Yang, X.; Guo, X.; Chen, Y.; Chen, G.; Ma, Y.; Huang, K.; Zhang, Y.; Zhao, Q.; Winkler, C.A.; An, P.; et al. Telomerase reverse transcriptase promoter mutations in hepatitis B virus-associated hepatocellular carcinoma. Oncotarget 2016, 7, 27838-27847. [CrossRef] [PubMed] [OpenAIRE]

107. Huang, W.; Zhou, W.; Li, C.; Yang, Y.; Shang, Y.K.; Chen, C.; Zhang, J.; Yao, R.; Wang, P.; Wen, W.; et al. Promoter mutations and cellular distribution of telomerase in non-clear cell and clear cell hepatocellular carcinoma. Oncotarget 2017, 8, 26288-26297. [CrossRef] [PubMed] [OpenAIRE]

108. Lee, H.W.; Park, T.I.; Jang, S.Y.; Park, S.Y.; Park, W.J.; Jung, S.J.; Lee, J.H. Clinicopathological characteristics of TERT promoter mutation and telomere length in hepatocellular carcinoma. Medicine 2017, 96, e5766. [CrossRef] [PubMed]

109. Yuan, X.T.; Cheng, G.H.; Yu, J.Y.; Zheng, S.Z.; Sun, C.; Sun, Q.; Li, K.L.; Lin, Z.M.; Liu, T.T.; Li, P.; et al. The TERT promoter mutation incidence is modified by germline TERT rs2736098 and rs2736100 polymorphisms in hepatocellular carcinoma. Oncotarget 2017, 8, 23120-23129. [CrossRef] [PubMed] [OpenAIRE]

110. Qu, Y.; Shi, L.; Wang, D.; Zhang, B.; Yang, Q.; Ji, M.; Shi, B.; Hou, P. Low frequency of TERT promoter mutations in a large cohort of gallbladder and gastric cancers. Int. J. Cancer 2014, 134, 2993-2994. [CrossRef] [PubMed]

111. Zhao, Y.; Gao, Y.; Chen, Z.; Hu, X.; Zhou, F.; He, J. Low frequency of TERT promoter somatic mutation in 313 sporadic esophageal squamous cell carcinomas. Int. J. Cancer 2014, 134, 493-494. [CrossRef] [PubMed]

112. Van Nistelrooij, A.M.; Zwarthoff, E.C.; Post, E.; Lurkin, I.; van Marion, R.; Korpershoek, E.; Biermann, K.; Wijnhoven, B.P.; Dinjens, W.N. Absence of TERT promoter mutations in esophageal adenocarcinoma. Int. J. Cancer 2014, 134, 2014-2015. [CrossRef] [PubMed]

113. Liu, T.; Liang, X.; Bjorkholm, M.; Jia, J.; Xu, D. The absence of TERT promoter mutations in primary gastric cancer. Gene 2014, 540, 266-267. [CrossRef] [PubMed]

114. Eichenmuller, M.; Trippel, F.; Kreuder, M.; Beck, A.; Schwarzmayr, T.; Haberle, B.; Cairo, S.; Leuschner, I.; von Schweinitz, D.; Strom, T.M.; et al. The genomic landscape of hepatoblastoma and their progenies with HCC-like features. J. Hepatol. 2014, 61, 1312-1320. [CrossRef] [PubMed] [OpenAIRE]

115. Wang, N.; Liu, T.T.; Sofiadis, A.; Juhlin, C.C.; Zedenius, J.; Hoog, A.; Larsson, C.; Xu, D.W. TERT Promoter Mutation as an Early Genetic Event Activating Telomerase in Follicular Thyroid Adenoma (FTA) and Atypical FTA. Cancer 2014, 120, 2965-2979. [CrossRef] [PubMed]

380 references, page 1 of 26
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