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Article

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.

Journal of the National Cancer Institute - 1 Aug 2018

Rana Huma Q, Gelman Rebecca, LaDuca Holly, McFarland Rachel, Dalton Emily, Thompson Jennifer, Speare Virginia, Dolinsky Jill S, Chao Elizabeth C, Garber Judy E

Abstract excerpt

Background: Li-Fraumeni syndrome (LFS) has traditionally been identified by single-gene testing (SGT) of TP53 triggered by clinical criteria, but the widespread use of multigene panel tests (MGPTs) has upended this paradigm. We sought to compare the personal and family cancer histories of TP53-positive result (TP53+) carriers who were identified by either MGPT or SGT. Methods: Of 44 310 individuals who underwent...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29529297
DOI: 10.1093/jnci/djy001

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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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