Lynch syndrome in the general population: low clinical utility of genomic screening for PMS2 pathogenic variants
Kelly M. Schiabor Barrett, Catherine A. Hajek, James T. Lu, Kate Lynch, Leigha A. Senter, Amy Curry Sturm, Chad R. Haldeman-Englert, Jeremy Cauwels, Douglas A. Stoller, Christopher N. Chapman, C. Anwar A. Chahal, Daniel Philip Judge, Douglas A. Olson, Joseph J. Grzymski, William Lee, , Alexandre Bolze
This study assesses the cancer risk associated with PMS2 pathogenic variants in the general population and finds low clinical utility for genomic screening.
medRxiv · Feb 3, 2025 · PreprintGenetic & Genomic Medicine