Telomere Maintenance Mechanisms in Cancer

• Type: Article in International Scientific Journal
• Date: 2018

Authors

Gaspar, TB (Author) Other; Sa, A (Author) Other; Lopes, JM (Author) FMUP; Sobrinho Simoes, M (Author) Other; Soares, P (Author) ICBAS; Vinagre, J (Author) Other

Journal

Title: Genes

Vol. 9

Final page: 241

ISSN: 2073-4425

Publisher: MDPI

Indexing

ISI Web of Knowledge - 90 Citations

Scopus - 97 Citations

Other information

Authenticus ID: P-00N-YK4

DOI: 10.3390/genes9050241

Abstract (EN): 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 TERT and TERC, polymorphic variants of the TERT gene and of its promoter, rearrangements of the TERT gene, epigenetic changes, ALT, and non-defined TMM (NDTMM). We gathered information from over fifty thousand patients reported in 288 papers in the last years. This wide data collection enabled us to portray, by organ/system and histotypes, the prevalence of TERTp mutations, TERT and TERC amplifications, and ALT in human tumours. Based on this information, we discuss the putative future clinical impact of the aforementioned mechanisms on the malignant transformation process in different setups, and provide insights for screening, prognosis, and patient management stratification.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 58