Report of a bi-allelic truncating germline mutation in TP53
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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.
KeywordsLi-Fraumeni syndrome TP53 Pediatric oncology Homozygous germline
We are grateful to the family who provided consent for publication of this manuscript. This work is supported in part by a grant from the Canadian Institutes of Health Research (MOP-300105) to DM.
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Conflict of interest
The authors declare no conflict of interest.
Informed consent was obtained from all individuals included in this study, including the publication of photographs.
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