The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma

Weinhold, Niels, Johnson, David C., Chubb, Daniel, Chen, Bowang, Försti, Asta, Hosking, Fay J., Broderick, Peter, Ma, Yussanne P., Dobbins, Sara E., Hose, Dirk, Walker, Brian A., Davies, Faith E., Kaiser, Martin F., Li, Ni L., Gregory, Walter A., Jackson, Graham H., Witzens-Harig, Mathias, Neben, Kai, Hoffmann, Per, Nöthen, Markus M., Mühleisen, Thomas W., Eisele, Lewin, Ross, Fiona M, Jauch, Anna, Goldschmidt, Hartmut, Houlston, Richard S., Morgan, Gareth J. and Hemminki, Kari (2013) The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma. Nature Genetics, 45 (5), 522-525. (doi:10.1038/ng.2583). (PMID:23502783)

Abstract

A number of specific chromosomal abnormalities define the subgroups of multiple myeloma. In a meta-analysis of two genome-wide association studies of multiple myeloma including a total of 1 1,661 1 affected individuals, we investigated risk for developing a specific tumor karyotype. The t(1111;14)(q13;q32) translocation in which CCND1 is placed under the control of the immunoglobulin heavy chain enhancer was strongly associated with the CCND1 c.870G>A polymorphism (P = 7.96 × 1 10?1111). These results provide a model in which a constitutive genetic factor is associated with risk of a specific chromosomal translocation.

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