TERT promoter mutations in telomere biology

B Heidenreich, R Kumar - Mutation Research/Reviews in Mutation …, 2017 - Elsevier
Telomere repeats at chromosomal ends, critical to genome integrity, are maintained through
an elaborate network of proteins and pathways. Shelterin complex proteins shield telomeres …

Cancer-specific telomerase reverse transcriptase (TERT) promoter mutations: biological and clinical implications

T Liu, X Yuan, D Xu - Genes, 2016 - mdpi.com
The accumulated evidence has pointed to a key role of telomerase in carcinogenesis. As a
RNA-dependent DNA polymerase, telomerase synthesizes telomeric DNA at the end of …

Transcription Regulation of the Human Telomerase Reverse Transcriptase (hTERT) Gene

MK Ramlee, J Wang, WX Toh, S Li - Genes, 2016 - mdpi.com
Embryonic stem cells and induced pluripotent stem cells have the ability to maintain their
telomere length via expression of an enzymatic complex called telomerase. Similarly, more …

Telomere maintenance mechanisms in cancer

T Bordeira Gaspar, A Sá, JM Lopes… - Genes, 2018 - mdpi.com
Tumour cells can adopt telomere maintenance mechanisms (TMMs) to avoid telomere
shortening, an inevitable process due to successive cell divisions. In most tumour cells …

Implications of TERT promoter mutations and telomerase activity in urothelial carcinogenesis

C Günes, F Wezel, J Southgate, C Bolenz - Nature reviews Urology, 2018 - nature.com
Telomerase activity imparts eukaryotic cells with unlimited proliferation capacity, one of the
cancer hallmarks. Over 90% of human urothelial carcinoma of the bladder (UCB) tumours …

The prognostic impact of TERT promoter mutations in glioblastomas is modified by the rs2853669 single nucleotide polymorphism

R Batista, A Cruvinel‐Carloni, J Vinagre… - … journal of cancer, 2016 - Wiley Online Library
Human hotspot TERT promoter (TERTp) mutations have been reported in a wide range of
tumours. Several studies have shown that TERTp mutations are associated with …

Molecular profiling, including TERT promoter mutations, of acral lentiginous melanomas

V de Lima Vazquez, AL Vicente, A Carloni… - Melanoma …, 2016 - journals.lww.com
Acral lentiginous melanoma (ALM) is the less common subtype with singular
characterization. TERT (human telomerase reverse transcriptase) promoter mutations have …

A mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix

K Hara, T Saito, T Hayashi, A Yimit, M Takahashi… - … -Research and Practice, 2015 - Elsevier
Appendiceal mucinous tumors (AMTs) are classified as low-grade appendiceal mucinous
neoplasms (LAMNs) or mucinous adenocarcinomas (MACs), although their carcinogenesis …

Occurrence, functionality and abundance of the TERT promoter mutations

S Rachakonda, JD Hoheisel… - International Journal of …, 2021 - Wiley Online Library
Telomere shortening at chromosomal ends due to the constraints of the DNA replication
process acts as a tumor suppressor by restricting the replicative potential in primary cells …

Biological and therapeutic implications of RKIP in Gastrointestinal Stromal Tumor (GIST): an integrated transcriptomic and proteomic analysis

NC Campanella, INF Gomes, ALV Alves, LF Leal… - Cancer Cell …, 2023 - Springer
Background Gastrointestinal stromal tumors (GIST) represent a significant clinical challenge
due to their metastatic potential and limited treatment options. Raf kinase inhibitor protein …