Patients with telomere biology disorders show context specific somatic mosaic states with high frequency of U2AF1 variants.

Alejandro Ferrer Terra L LashoJenna A FernandezNickolas P SteinauerRachel A SimonChristy M FinkeEva M CarmonaMark E WylamLaura J OngieBrittany N BurnapCecilia Y Arana YiLisa Z SproatJames ForanTalha Badar Abhishek A Mangaonkar Mirinal S Patnaik

Published in: American journal of hematology (2023)

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.

Keyphrases

copy number
high frequency
dna damage response
transcranial magnetic stimulation
genome wide
papillary thyroid
dna methylation
dna repair
atrial fibrillation
squamous cell
gene expression
dna damage