Telomerase deficiency and cancer susceptibility syndromes.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico
Rosario PeronaJaime Carrillo

Abstract

Telomeres from most eukaryotes are composed of repeats of guanine-rich sequences whose main function is to preserve the end of the chromosomes. Telomeres are synthesised by a reverse transcriptase enzyme, telomerase (TERT), which forms part of a ribonucleoprotein complex containing also a RNA template molecule (TERC) and dyskerin. Exhaustion of telomeres during cell divisions triggers a DNA damage response that induces a senescence phenotype. The DNA damage machinery plays an essential role in maintaining the integrity of the genome and also detecting telomere shortening. However in some syndromes that involved mutations either in the telomerase complex genes or those involved in maintaining DNA secondary structure, such as the recQ helicase WRN, a higher frequency in the development of different types of malignancies is observed. We here describe the biology of some of these diseases, together with the molecular modifications in the telomerase complex genes and the impact of these alterations on the development of particular types of cancer.

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Citations

Apr 24, 2012·Journal of the National Cancer Institute·Simone MocellinDonato Nitti
Jan 29, 2011·Clinical Science·Haidong ZhuPim van der Harst
Sep 9, 2016·PLoS Genetics·Mrinmoyee MajumderViswanathan Palanisamy
Sep 22, 2012·Angewandte Chemie·Alessandro AgostiniJosé Ramón Murguía

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