Frameshift mutations in peripheral blood as a biomarker for surveillance of Lynch syndrome.

Yurong SongHolli Loomans-KroppRyan N BaugherBrandon SomervilleShaneen S BaxterTravis D KerrTeri M PlonaStephanie D MellottTodd B YoungHeidi E LawhornLei WeiQiang HuSong LiuAlan HutsonLigia PintoJohn D PotterShizuko SeiOzkan GelincikSteven M LipkinJohannes GebertMatthias KloorRobert H Shoemaker

Published in: Journal of the National Cancer Institute (2024)

We demonstrated that frameshift mutations can be detected in cfDNA from high microsatellite instability and mismatch repair-deficient patients and asymptomatic carriers. The 122-target frameshift mutation panel described here has promise as a tool for improved surveillance of high microsatellite instability and mismatch repair-deficient patients, with the potential to reduce the frequency of invasive screening methods for this high-cancer-risk cohort.

Keyphrases

peripheral blood
public health
end stage renal disease
newly diagnosed
ejection fraction
machine learning
big data
risk assessment
deep learning
artificial intelligence
human health