Reducing Unnecessary Screening in Lynch-Like Syndrome with Tumor Sequencing
A simulated case based survey assessed the use of tumor sequencing data in making recommendations for colon and endometrial cancer screening/prevention in suspected Lynch syndrome.
Providers often recommend increased screening procedures based on the detection of mismatch repair deficiency by IHC staining, even when no germline MMR mutation has been identified.
Knowledge of biallelic somatic mutations in a MMR gene (detected by tumor sequencing) helps to rule out Lynch syndrome and reduces the need for costly high-risk screening and risk reduction procedures.
Authors: Virginia Speare; Kyle Allen; Sara Pirzadeh-Miller; Amber Gemmell; Andrea Forman; Leigha Senter; Holly LaDuca; Brigette Tippin Davis; Kory Jasperson
Collaborators: Fox Chase Cancer Center; Ohio State University (OSU); The University of Texas