CCND1, 11q13.3, Red
CCND1, 11q13.3, Green
The CCND1 product consists of two green 154kb, 289kb probes that are positioned centromeric to the CCND1 gene and two red 159kb, 373kb probes, covering the CCND1 gene and surrounding telomeric regions up to the D11S1919 marker.
The Cyclin D1 (CCND1) gene located at 11q13.3 encodes a protein that belongs to the highly conserved cyclin family. Mutations, amplifications and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumours and may contribute to tumourigenesis1.
Cyclins function as regulators of cyclin dependent kinases (CDKs). CCND1 forms a complex with, and functions as a regulatory subunit of, CDK4 or CDK8, whose activity is required for the G1/S transition through the cell cycle1. The translocation t(11;14)(q13;q32) between CCND1 and Immunoglobulin Heavy chain (IGH) has been described as the molecular hallmark for Mantle Cell Lymphoma (MCL)2,5, a subtype of B-cell non-Hodgkin Lymphoma, and results in overexpression of cyclin D1. This translocation is estimated to occur in 53-93% of MCL cases3 and has also been implicated in 10-25% of Multiple Myeloma patients with abnormal cytogenetics4.
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