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Article

A novel TP53 tandem duplication in a child with Li-Fraumeni syndrome.

Cold Spring Harbor molecular case studies - 1 Apr 2022

Xu Feng, Aref-Eshghi Erfan, Wu Jinhua, Schubert Jeffrey, Wertheim Gerald, Bhatti Tricia, Pogoriler Jennifer, Patel Maha, Cao Kajia, Long Ariel, Fan Zhiqian, Denenberg Elizabeth H, Fanning Elizabeth A, Wilmoth Donna M, Luo Minjie, Conlin Laura K, Dain Aleksandra S, Zelley Kristin, Baldino Sarah, Balamuth Naomi, MacFarland Suzanne, Li Marilyn M, Zhong Yiming

Abstract excerpt

Li-Fraumeni syndrome (LFS) is one of the most common cancer predisposition syndromes that affects both children and adults. Individuals with LFS are at an increased risk of developing various types of cancer over their lifetime including soft tissue sarcomas, osteosarcomas, breast cancer, leukemia, brain tumors, and adrenocortical carcinoma. Heterozygous germline pathogenic variants in the tumor suppressor gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35232817
DOI: 10.1101/mcs.a006181
PMCID: PMC9059784

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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