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Integrated analysis of cell-free DNA for the early detection of cancer in people with Li-Fraumeni Syndrome

2022-10-11 genetic and genomic medicine Title + abstract only
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Despite advances in cancer therapeutics, early detection is often the best prognostic indicator for survival (1). People with Li-Fraumeni syndrome harbor a germline pathogenic variant in the tumor suppressor gene TP53 (2) and face a near 100% lifetime risk of developing a wide spectrum of, often multiple, cancers (3). TP53 mutation carriers routinely undergo intensive surveillance protocols which, although associated with significantly improved survival, are burdensome to both the patient and th...

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