Report of a bi-allelic truncating germline mutation in TP53
- 08.05.2018
- Short Communication
Erschienen in:
- Verfasst von
- Natasha J. Brown
- Kanika Bhatia
- Julie Teague
- Susan M. White
- Patrick Lo
- Jackie Challis
- Victoria Beshay
- Michael Sullivan
- David Malkin
- Jordan R. Hansford
- Erschienen in
- Familial Cancer | Ausgabe 1/2019
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.
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- Titel
- Report of a bi-allelic truncating germline mutation in TP53
- Verfasst von
-
Natasha J. Brown
Kanika Bhatia
Julie Teague
Susan M. White
Patrick Lo
Jackie Challis
Victoria Beshay
Michael Sullivan
David Malkin
Jordan R. Hansford
- Publikationsdatum
- 08.05.2018
- Verlag
- Springer Netherlands
- Erschienen in
-
Familial Cancer / Ausgabe 1/2019
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292 - DOI
- https://doi.org/10.1007/s10689-018-0087-1
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