Report of a bi-allelic truncating germline mutation in TP53.

2018-05-08

Brown, Natasha J

Bhatia, Kanika

Teague, Julie

White, Susan M

Lo, Patrick

Challis, Jackie

Beshay, Victoria

Sullivan, Michael

Malkin, David

Hansford, Jordan R

Homozygous germline

Li-Fraumeni syndrome

Pediatric oncology

TP53

Journal Article

10.1007/s10689-018-0087-1

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.

link

Familial cancer 2018; online first: 8 May

Familial cancer