Interpretation 58
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Variants
Primary Sites
Interpretation
CTCF is a zinc finger protein involved in a variety of cell functions. Mutations of CTCF including missense, nonsense and frameshift mutations occur throughout the gene and have been reported in approximately 5% of acute megakaryoblastic leukemia, 2% of transient abnormal myelopoiesis, less than 5% of AML, less than 5% of MDS and less than 5% cases of ALL.
Citations
- Yoshida K, et al. The landscape of somatic mutations in Down syndrome-related myeloid disorders. Nat Genet 2013;45(11):1293-9
- Dolnik A, et al. Commonly altered genomic regions in acute myeloid leukemia are enriched for somatic mutations involved in chromatin remodeling and splicing. Blood 2012;120(18):e83-92
- Mullighan CG, et al. CREBBP mutations in relapsed acute lymphoblastic leukaemia. Nature 2011;471(7337):235-9
Last updated: 2016-06-05 01:48:59 UTC