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BCOR
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Interpretation 2275
Tier 2
BCOR
Variants
BCOR any mutation
BCOR any missense
Primary Sites
Blood
Bone Marrow
Tumor Types
Acute Leukemia of Unspecified Cell Type
Acute Myeloid Leukemia
Anemia, Unspecified
Atypical Chronic Myeloid Leukemia
Chronic Myelomonocytic Leukemia
Chronic Neutrophilic Leukemia
Cytopenia
MDS with Ring Sideroblasts
Myelodysplastic Syndrome
Myelodysplastic/Myeloproliferative Neoplasm
Myeloid Neoplasm
Myeloproliferative Neoplasm
Thrombocytopenia, Unspecified
Other Acute Leukemia
Leukopenia
Essential Thrombocythemia
Primary Myelofibrosis
Monocytosis
Polycythemia
Thrombocytosis
Leukocytosis
Interpretation

BCOR is a ubiquitously expressed nuclear protein that is a transcriptional corepressor important in several cellular processes. Somatic, nonsense and frameshift mutations throughout BCOR have been reported in approximately 7% of chronic myelomonocytic leukemia, 4% of patients with myelodysplastic syndrome(MDS), 4% of primary acute myeloid leukemia and appear to be associated with RUNX1 and DNMT3A mutations . Also, BCOR mutations may be enriched among cases of AML lacking NPM1, CEBPA, FLT3-ITD, IDH1 and MLL-PTD alterations. BCOR mutations tend to be subclonal in MDS, clonal in primary AML and are believed to have significance as loss of function mutations in a tumor suppressor gene that affect the functional allele in male and female patients. The presence of BCOR mutation in patients with MDS and AML has been associated with poorer overall survival according to some studies.

Citations
  1. Damm F, et al. BCOR and BCORL1 mutations in myelodysplastic syndromes and related disorders. Blood 2013;122(18):3169-77
  2. Tiacci E, et al. The corepressors BCOR and BCORL1: two novel players in acute myeloid leukemia. Haematologica 2012;97(1):3-5
  3. Grossmann V, et al. Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype. Blood 2011;118(23):6153-63
  4. National Comprehensive Cancer Network, Clinical Practice Guidelines in Oncology. Myelodysplastic Syndromes (Version 1.2019).
Last updated: 2019-01-02 22:50:45 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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