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Article

Evaluation of TP53 Variants Detected on Peripheral Blood or Saliva Testing: Discerning Germline From Somatic TP53 Variants.

JCO precision oncology - 1 Nov 2021

Schwartz Alison N, Hyman Sophie R, Stokes Samantha M, Castillo Danielle, Tung Nadine M, Weitzel Jeffrey N, Rana Huma Q, Garber Judy E

Abstract excerpt

PURPOSE: Multigene panel testing (MGPT) identifies TP53 pathogenic or likely pathogenic (P/LP) variants in patients with diverse phenotypes, of which only one is classic Li-Fraumeni syndrome. Low variant allelic fraction (VAF) in TP53 found on germline testing may suggest aberrant clonal expansion or constitutional mosaicism. We evaluated TP53-positive probands seen in a cancer genetics program to determine...

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PMID: 34994652
DOI: 10.1200/PO.21.00278

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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