Journal article
Report of a bi-allelic truncating germline mutation in TP53
Natasha J Brown, Kanika Bhatia, Julie Teague, Susan M White, Patrick Lo, Jackie Challis, Victoria Beshay, Michael Sullivan, David Malkin, Jordan R Hansford
FAMILIAL CANCER | SPRINGER | Published : 2019
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.
Grants
Awarded by Canadian Institutes of Health Research
Funding 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.