A comprehensive analysis of POLE/POLD1 genomic alterations in colorectal cancer.

Osama Mosalem Tucker W Coston Robin Imperial Elizabeth MauerChristopher ThompsonBinyam YilmaTanios S Bekaii-SaabMelissa Conrad StopplerJason S Starr

Published in: The oncologist (2024)

Patients with POLE/POLD1 mutations exhibited significant differences across immunological markers (ie, TMB, MMR, and MSI-H) and molecular co-alterations. Those with short variant mutations represented 18% of the POLE/POLD1 cohort and 0.4% of the total cohort examined. This group of patients had a median TMB of 159 mut/Mb (range 34-488), representing the ultra-hypermutated phenotype. This group of patients is important to identify given the potential for exceptional response to immune checkpoint inhibitors.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
copy number
single molecule
mass spectrometry
genome wide