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Article

Identification of TP53 germline variants in pediatric patients undergoing tumor testing: strategy and prevalence.

Journal of the National Cancer Institute - 1 Aug 2024

Luo Minjie, Wong Derek, Zelley Kristin, Wu Jinhua, Schubert Jeffery, Denenberg Elizabeth H, Fanning Elizabeth A, Chen Jiani, Gallo Daniel, Golenberg Netta, Patel Maha, Conlin Laura K, Maxwell Kara N, Wertheim Gerald B, Surrey Lea F, Zhong Yiming, Brodeur Garrett M, MacFarland Suzanne P, Li Marilyn M

Abstract excerpt

BACKGROUND: TP53 alterations are common in certain pediatric cancers, making identification of putative germline variants through tumor genomic profiling crucial for disease management. METHODS: We analyzed TP53 alterations in 3123 tumors from 2788 pediatric patients sequenced using tumor-only or tumor-normal paired panels. Germline confirmatory testing was performed when indicated. Somatic and germline variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38702830
DOI: 10.1093/jnci/djae102

Genes

TP53

Provenance

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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