Solving Missing Heritability in Patients With Familial Adenomatous Polyposis With DNA-RNA Paired Testing
Colin C. Young,
Carolyn Horton,
Jessica Grzybowski
et al.
Abstract:PURPOSE Patients with germline pathogenic variants (PVs) in APC develop tens (attenuated familial adenomatous polyposis [AFAP]) to innumerable (classic FAP) adenomatous polyps in their colon and are at significantly increased lifetime risk of colorectal cancer. Up to 10% of FAP and up to 50% of patients with AFAP who have undergone DNA-only multigene panel testing (MGPT) do not have an identified PV in APC. We seek to demonstrate how the addition of RNA sequencing run concurrently with DNA can improve detectio… Show more
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