POLE and POLD1 germline exonuclease domain pathogenic variants, a rare event in colorectal cancer from the Middle East.

Abdul K SirajRong BuKaleem IqbalSandeep K ParvathareddyTariq MasoodiNabil SirajMaha Al-RasheedYan KongSaeeda O AhmedKhadija A S Al-ObaisiIngrid G VictoriaMaham ArshadFouad Al-DayelAlaa AbduljabbarLuai H AshariKhawla S Al-Kuraya

Published in: Molecular genetics & genomic medicine (2020)

POLE and POLD1 exonuclease domain pathogenic variants frequency in CRC cases was very low and these exonuclease domain pathogenic variants might be rare causative events of CRC in the Middle East. POLE and POLD1 can be included in multi-gene panels to screen CRC patients.

Keyphrases

copy number
end stage renal disease
newly diagnosed
chronic kidney disease
genome wide
prognostic factors
dna methylation
dna repair
patient reported