Title | Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing. |
Publication Type | Journal Article |
Year of Publication | 2013 |
Authors | Powell, BC, Jiang, L, Muzny, DM, Treviño, LR, Dreyer, ZE, Strong, LC, Wheeler, DA, Gibbs, RA, Plon, SE |
Journal | Pediatr Blood Cancer |
Volume | 60 |
Issue | 6 |
Pagination | E1-3 |
Date Published | 2013 Jun |
ISSN | 1545-5017 |
Keywords | Exome, Female, Genetic Predisposition to Disease, Humans, Male, Pedigree, Precursor Cell Lymphoblastic Leukemia-Lymphoma, Tumor Suppressor Protein p53 |
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. |
DOI | 10.1002/pbc.24417 |
Alternate Journal | Pediatr Blood Cancer |
PubMed ID | 23255406 |
PubMed Central ID | PMC3926299 |
Grant List | R01 CA138836 / CA / NCI NIH HHS / United States T32 GM007526 / GM / NIGMS NIH HHS / United States U54 HG003273 / HG / NHGRI NIH HHS / United States |
Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing.
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