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 ShoemakerPublished 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.