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.
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Acknowledgements
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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Brown, N.J., Bhatia, K., Teague, J. et al. Report of a bi-allelic truncating germline mutation in TP53. Familial Cancer 18, 101–104 (2019). https://doi.org/10.1007/s10689-018-0087-1
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DOI: https://doi.org/10.1007/s10689-018-0087-1