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

Bradford C. Powell; Lichun Jiang; Donna M. Muzny; Lisa R. Treviño; Zoann E. Dreyer; Louise C. Strong; David A. Wheeler; Richard A. Gibbs; Sharon E. Plon

doi:10.1002/pbc.24417

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

Bradford C. Powell, Lichun Jiang, Donna M. Muzny, Lisa R. Treviño, Zoann E. Dreyer, Louise C. Strong, David A. Wheeler, Richard A. Gibbs, Sharon E. Plon

Genetics

Research output: Contribution to journal › Article › peer-review

38 Scopus citations

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.

Original language	English (US)
Pages (from-to)	E1-E3
Journal	Pediatric Blood and Cancer
Volume	60
Issue number	6
DOIs	https://doi.org/10.1002/pbc.24417
State	Published - Jun 2013

Keywords

Acute lymphocytic leukemia
Exome sequencing
Genetic predisposition to disease
Genetic testing

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

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10.1002/pbc.24417

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title = "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.",

keywords = "Acute lymphocytic leukemia, Exome sequencing, Genetic predisposition to disease, Genetic testing",

author = "Powell, {Bradford C.} and Lichun Jiang and Muzny, {Donna M.} and Trevi{\~n}o, {Lisa R.} and Dreyer, {Zoann E.} and Strong, {Louise C.} and Wheeler, {David A.} and Gibbs, {Richard A.} and Plon, {Sharon E.}",

year = "2013",

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T1 - Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing

AU - Powell, Bradford C.

AU - Jiang, Lichun

AU - Muzny, Donna M.

AU - Treviño, Lisa R.

AU - Dreyer, Zoann E.

AU - Strong, Louise C.

AU - Wheeler, David A.

AU - Gibbs, Richard A.

AU - Plon, Sharon E.

PY - 2013/6

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N2 - 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.

AB - 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.

KW - Acute lymphocytic leukemia

KW - Exome sequencing

KW - Genetic predisposition to disease

KW - Genetic testing

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

Abstract

Keywords

ASJC Scopus subject areas

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