期刊
PEDIATRIC BLOOD & CANCER
卷 60, 期 6, 页码 E1-E3出版社
WILEY-BLACKWELL
DOI: 10.1002/pbc.24417
关键词
acute lymphocytic leukemia; exome sequencing; genetic predisposition to disease; genetic testing
资金
- Cancer Prevention and Research Institute of Texas [RP10189]
- National Cancer Institute [R01 CA138836]
- National Institute of General Medical Sciences [T32 GM007526]
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. Pediatr Blood Cancer 2013; 60: E1E3. (c) 2012 Wiley Periodicals, Inc.
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