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

ABSTRACT: 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.

SUBMITTER: Powell BC 

PROVIDER: S-EPMC3926299 | biostudies-literature | 2013 Jun

REPOSITORIES: biostudies-literature