Derek Wong, Ping Luo, Leslie E Oldfield, Haifan Gong, Ledia Brunga, Ron Rabinowicz, Vallijah Subasri, Clarissa Chan, Tiana Downs, Kirsten M Farncombe, Beatrice Luu, Maia Norman, Julia A Sobotka, Precious Uju, Jenna Eagles, Stephanie Pedersen, Johanna Wellum, Arnavaz Danesh, Stephenie D Prokopec, Eric Y Stutheit-Zhao, Nadia Znassi, Lawrence E Heisler, Richard Jovelin, Bernard Lam, Beatriz E Lujan Toro, Kayla Marsh, Yogi Sundaravadanam, Dax Torti, Carina Man, Anna Goldenberg, Wei Xu, Patrick Veit-Haibach, Andrea S Doria, David Malkin, Raymond H Kim, Trevor J Pugh
People with Li-Fraumeni syndrome harbor a germline pathogenic variant in the TP53 tumor suppressor gene; face a near 100% lifetime risk of cancer; and routinely undergo intensive surveillance protocols. Liquid biopsy has become an attractive tool for a range of clinical applications, including early cancer detection. Here, we provide a proof-of-principle for a multi-modal liquid biopsy assay that integrates a targeted gene panel, shallow whole genome, and cell-free methylated DNA immunoprecipitation sequencing for the early detection of cancer in a longitudinal cohort of 89 Li-Fraumeni syndrome patients...
October 24, 2023: Cancer Discovery