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Article

Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing.

The Journal of molecular diagnostics : JMD - 1 Mar 2020

Mester Jessica L, Jackson Sarah A, Postula Kristen, Stettner Amy, Solomon Sheila, Bissonnette Jeffrey, Murphy Patricia D, Klein Rachel T, Hruska Kathleen S

Abstract excerpt

Heterozygous (HET) TP53 pathogenic variants (PVs) are associated with Li-Fraumeni syndrome (LFS), a dominantly inherited condition causing high risk for sarcoma, breast, and other cancers. Recent reports describe patients without features of LFS and apparently HET TP53 PVs in blood cells but not fibroblasts (FBs), suggesting the variant occurred sporadically during hematopoiesis and rose to high allele fraction...

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Identifiers

PMID: 31881331
DOI: 10.1016/j.jmoldx.2019.12.003

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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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