Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.

Autor: Powell BC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Jiang L, Muzny DM, Treviño LR, Dreyer ZE, Strong LC, Wheeler DA, Gibbs RA, Plon SE
Jazyk: angličtina
Zdroj: Pediatric blood & cancer [Pediatr Blood Cancer] 2013 Jun; Vol. 60 (6), pp. E1-3. Date of Electronic Publication: 2012 Dec 19.
DOI: 10.1002/pbc.24417
Abstrakt: Although acute lymphocytic leukemia (ALL) is the most common childhood cancer, genetic predisposition to ALL remains poorly understood. Whole-exome sequencing was performed in an extended kindred in which five individuals had been diagnosed with leukemia. Analysis revealed a nonsense variant of TP53 which has been previously reported in families with sarcomas and other typical Li Fraumeni syndrome-associated cancers but never in a familial leukemia kindred. This unexpected finding enabled identification of an appropriate sibling bone marrow donor and illustrates that exome sequencing will reveal atypical clinical presentations of even well-studied genes.
(Copyright © 2012 Wiley Periodicals, Inc.)
Databáze: MEDLINE
Externí odkaz: