March 18, 2016

22q13, PDGFB

PDGFB rearrangements, 22q13.1 The PDGFB gene, located at chromosome 22, encodes the human platelet-derived growth factor (PDGF) B chain precursor and is the cellular homologue of the v-sis oncogene. The reciprocal translocations involving the chromosomal region 17q21.33 harboring the COL1A1 (a.k.a. OI4) gene, and the chromosomal region 22q13.1, harboring the PDGFB (a.k.a PDGF2) gene, t(17;22)(q21.3;q13.1), […]

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9p13, PAX5

PAX5 rearrangements, t(9p13) The human PAX5 (paired box gene 5) gene at chromosome 9 band p13 encodes a B-cell lineage specific activator protein (BSAP), essential in normal B-cell lymphopoiesis. PAX5 plays an important role in the generation and function of distinct mature B-cell types by controlling the identity and development of B cells (from pro-B cells

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13q14, FOXO1 (FKHR)

FOXO1 rearrangements, 13q14 The forkhead box O (FOXO) transcription factors are considered as tumor suppressors that limit cell proliferation and induce apoptosis. FOXO1 gene alterations have been described in a limited number of human cancers, such as rhabdomyosarcoma, leukemia and lymphoma. In acute and chronic myeloid leukemia FOXO1 contributes to the maintenance of leukemia-initiating cells, while in

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