April 23, 2024Open Access

Clinical management of TP53 mosaic variants found on germline genetic testing

AWAbigail WardUniversity of Cambridge DFDana Farengo-ClarkUniversity of Pennsylvania Health System DMDanielle McKennaUniversity of Pennsylvania

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Abstract

Germline heterozygous TP53 pathogenic variants (PVs) cause Li Fraumeni Syndrome (LFS, OMIM#151623). TP53 PVs at lower-than-expected variant allele frequencies (VAF) may reflect postzygotic mosaicism (PZM) or clonal hematopoiesis (CH); however, no guidelines exist for workup and clinical management.

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Ward et al. (Tue,) studied this question.

synapsesocial.com/papers/68e6de7cb6db64358765a762 https://doi.org/https://doi.org/10.1016/j.cancergen.2024.04.002

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