Preferred Label : Aberrant Activation of Telomere Maintenance Pathway;
NCIt synonyms : Telomere Maintenance Pathway Deregulation; Telomere Maintenance Pathway Activation;
NCIt definition : In normal, non-stem cells, telomeres shorten with each cell division, which eventually
leads to short telomeres that cannot be capped and cell cycle arrest (cell senescence).
The activation of telomerase length maintenance pathways in tumor cells allows them
to escape senescence and replicate indefinitely. These pathways can be aberrantly
activated either through telomerase reactivation, which occurs due to mutations in
the TERT gene or its promoter, or through an alternative lengthening of telomeres
(ALT) pathway, which is usually associated with mutations in the ATRX gene.;
NCI Metathesaurus CUI : CL1778493;
Origin ID : C185885;
UMLS CUI : C5670127;
Molecular abnormality of diseases
- Semantic type(s)
