Patients with telomere biology disorders show context specific somatic mosaic states with high frequency of <scp><i>U2AF1</i></scp> variants
Alejandro Ferrer, Terra L. Lasho, Jenna Fernandez, Nickolas Steinauer, Rachel A Simon, Christy M. Finke, Eva M. Carmona, Mark E. Wylam, Laura J. Ongie, Brittany Burnap, Cecilia Y. Arana Yi, Lisa Z. Sproat, James M. Foran, Talha Badar, Abhishek A. Mangaonkar, Mrinal M. Patnaik
Abstract
Somatic mosaic states in telomere biology disorders are characterized by somatic variants in the spliceosome and DNA damage response and repair pathways. A likely maladaptive response to short telomeres that may lead to increased hematological cancer.
Topics & Concepts
TelomereSomatic cellSpliceosomeContext (archaeology)BiologyGeneticsGermline mutationTelomeraseDNA damageMutationDNAGeneRNA splicingRNAPaleontologyTelomeres, Telomerase, and SenescenceAcute Myeloid Leukemia ResearchRenal and related cancers