Abstract
The TP53 gene is fundamental to genomic integrity, cell cycle regulation, and apoptosis; it is the most commonly mutated gene in human cancer. Heterozygous germline mutations cause the autosomal dominant cancer predisposition syndrome, Li-Fraumeni Syndrome. Homozygous germline TP53 mutations in humans are rare. We report an infant from a consanguineous family who presented with synchronous malignancies. Remarkably, he carries a homozygous germline TP53 mutation (NM_000546.4:c.52delA), predicted to cause protein truncation. The family history is consistent with Li-Fraumeni syndrome.
Keywords:
Homozygous germline; Li-Fraumeni syndrome; Pediatric oncology; TP53.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Carcinoma / diagnostic imaging
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Carcinoma / genetics*
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Choroid Plexus Neoplasms / diagnostic imaging
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Choroid Plexus Neoplasms / genetics*
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Consanguinity
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Germ-Line Mutation
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Homozygote
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Humans
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Infant
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Li-Fraumeni Syndrome / genetics*
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Magnetic Resonance Imaging
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Male
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Neoplasms, Multiple Primary / diagnostic imaging
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Neoplasms, Multiple Primary / genetics*
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Orbital Neoplasms / diagnostic imaging
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Orbital Neoplasms / genetics*
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Pedigree
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Rhabdomyosarcoma, Embryonal / diagnostic imaging
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Rhabdomyosarcoma, Embryonal / genetics*
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Tumor Suppressor Protein p53 / genetics*
Substances
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TP53 protein, human
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Tumor Suppressor Protein p53