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Nat Genet. 2013 May;45(5):522-525. doi: 10.1038/ng.2583. Epub 2013 Mar 17.

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

Author information

1
Department of Internal Medicine V, University of Heidelberg, Heidelberg, Germany.
2
Haemato-Oncology Research Unit, Division of Molecular Pathology, Institute of Cancer Research, Surrey, UK.
3
Division of Genetics and Epidemiology, Institute of Cancer Research, Surrey, UK.
4
German Cancer Research Center, Heidelberg, Germany.
5
Center for Primary Health Care Research, Lund University, Malmo, Sweden.
6
National Centre for Tumour Diseases, Heidelberg, Germany.
7
University of Leeds, Leeds, UK.
8
Royal Victoria Infirmary, Newcastle-on-Tyne, UK.
9
Institute of Human Genetics, University of Bonn, Germany.
10
German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany.
11
Institute for Medical Informatics, Biometry and Epidemiology, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
12
Cytogenetics Group, Wessex Regional Cytogenetic Laboratory, Salisbury, UK.
13
Institute of Human Genetics, University of Heidelberg, Germany.
#
Contributed equally

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 1,661 affected individuals, we investigated risk for developing a specific tumor karyotype. The t(11;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 × 10(-11)). These results provide a model in which a constitutive genetic factor is associated with risk of a specific chromosomal translocation.

PMID:
23502783
PMCID:
PMC5056630
DOI:
10.1038/ng.2583
[Indexed for MEDLINE]
Free PMC Article

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