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

Nature Genetics

Volumn 45, Issue 5, 2013, Pages 522-525

  Weinhold, Niels ^a   Johnson, David C ^b   Chubb, Daniel ^b   Chen, Bowang ^c   Försti, Asta ^c,d   Hosking, Fay J ^b   Broderick, Peter ^b   Ma, Yussanne P ^b   Dobbins, Sara E ^b   Hose, Dirk ^a,e   Walker, Brian A ^b   Davies, Faith E ^b   Kaiser, Martin F ^b   Li, Ni L ^b   Gregory, Walter A ^f   Jackson, Graham H ^g   Witzens Harig, Mathias ^a   Neben, Kai ^a   Hoffmann, Per ^h   Nöthen, Markus M ^h,i   Mühleisen, Thomas W ^h   Eisele, Lewin ^j   Ross, Fiona M ^k   Jauch, Anna ^a   Goldschmidt, Hartmut ^a,e   Houlston, Richard S ^b   Morgan, Gareth J ^b   Hemminki, Kari ^c,d   more..

^a UNIVERSITY OF HEIDELBERG   (Germany)

^b INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d LUND UNIVERSITY   (Sweden)

^e National Centre for Tumour Diseases   (Germany)

^f UNIVERSITY OF LEEDS   (United Kingdom)

^g ROYAL VICTORIA INFIRMARY   (United Kingdom)

^h UNIVERSITY OF BONN   (Germany)

ⁱ GERMAN CENTER FOR NEURODEGENERATIVE DISEASES DZNE   (Germany)

^j UNIVERSITY OF DUISBURG ESSEN   (Germany)

^k Wessex Regional Cytogenetic Laboratory   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIN D1; IMMUNOGLOBULIN HEAVY CHAIN;

ARTICLE; CANCER RISK; CHROMOSOME TRANSLOCATION; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; KARYOTYPE; MULTIPLE MYELOMA; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 14; CYCLIN D1; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MULTIPLE MYELOMA; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; TRANSLOCATION, GENETIC;

EID: 84878596524     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.2583     Document Type: Article

References (35)

1. Anderson, K.C. & Carrasco, R.D. Pathogenesis of myeloma. Annu. Rev. Pathol. 6, 249-274 (2011).
2. Morgan, G.J., Walker, B.A. & Davies, F.E. The genetic architecture of multiple myeloma. Nat. Rev. Cancer 12, 335-348 (2012).
3. Sawyer, J.R. The prognostic significance of cytogenetics and molecular profiling in multiple myeloma. Cancer Genet. 204, 3-12 (2011).
4. Broderick, P. et al. Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk. Nat. Genet. 44, 58-61 (2012).
5. Power, C. & Elliott, J. Cohort profile: 1958 British birth cohort (National Child Development Study). Int. J. Epidemiol. 35, 34-41 (2006).
6. Schmermund, A. et al. Assessment of clinically silent atherosclerotic disease and established and novel risk factors for predicting myocardial infarction and cardiac death in healthy middle-aged subjects: rationale and design of the Heinz Nixdorf RECALL Study. Risk Factors, Evaluation of Coronary Calcium and Lifestyle. Am. Heart J. 144, 212-218 (2002).
7. Bhattacharjee, S. et al. A subset-based approach improves power and interpretation for the combined analysis of genetic association studies of heterogeneous traits. Am. J. Hum. Genet. 90, 821-835 (2012).
8. Jirawatnotai, S. et al. A function for cyclin D1 in DNA repair uncovered by protein interactome analyses in human cancers. Nature 474, 230-234 (2011).
9. Knudsen, K.E., Diehl, J.A., Haiman, C.A. & Knudsen, E.S. Cyclin D1: polymorphism, aberrant splicing and cancer risk. Oncogene 25, 1620-1628 (2006).
10. Chng, W.J., Glebov, O., Bergsagel, P.L. & Kuehl, W.M. Genetic events in the pathogenesis of multiple myeloma. Best Pract. Res. Clin. Haematol. 20, 571-596 (2007).
11. Gostissa, M., Alt, F.W. & Chiarle, R. Mechanisms that promote and suppress chromosomal translocations in lymphocytes. Annu. Rev. Immunol. 29, 319-350 (2011).
12. Fonseca, R. et al. Genetics and cytogenetics of multiple myeloma: a workshop report. Cancer Res. 64, 1546-1558 (2004).
13. Fernberg, P. et al. Genetic variation in chromosomal translocation breakpoint and immune function genes and risk of non-Hodgkin lymphoma. Cancer Causes Control 21, 759-769 (2010).
14. Pérez-Galán, P., Dreyling, M. & Wiestner, A. Mantle cell lymphoma: biology, pathogenesis, and the molecular basis of treatment in the genomic era. Blood 117, 26-38 (2011).
15. Pabalan, N. et al. Cyclin D1 Pro241Pro (CCND1-G870A) polymorphism is associated with increased cancer risk in human populations: a meta-analysis. Cancer Epidemiol. Biomarkers Prev. 17, 2773-2781 (2008).
16. Li, Z. et al. Alternate cyclin D1 mRNA splicing modulates p27KIP1 binding and cell migration. J. Biol. Chem. 283, 7007-7015 (2008).
17. Li, Z. et al. Alternative cyclin D1 splice forms differentially regulate the DNA damage response. Cancer Res. 70, 8802-8811 (2010).
18. Lévêque, C., Marsaud, V., Renoir, J.M. & Sola, B. Alternative cyclin D1 forms a and b have different biological functions in the cell cycle of B lymphocytes. Exp. Cell Res. 313, 2719-2729 (2007).
19. Marsaud, V. et al. Cyclin K and cyclin D1b are oncogenic in myeloma cells. Mol. Cancer 9, 103 (2010).
20. Morgan, G.J. et al. First-line treatment with zoledronic acid as compared with clodronic acid in multiple myeloma (MRC Myeloma IX): a randomised controlled trial. Lancet 376, 1989-1999 (2010).
21. Price, A.L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet. 38, 904-909 (2006).
22. Anderson, C.A. et al. Data quality control in genetic case-control association studies. Nat. Protoc. 5, 1564-1573 (2010).
23. Pettiti, D. Meta-analysis, Decision Analysis and Cost-Effectiveness Analysis (Oxford University Press, New York, 1994).
24. Higgins, J.P. & Thompson, S.G. Quantifying heterogeneity in a meta-analysis. Stat. Med. 21, 1539-1558 (2002).
25. Myers, S., Bottolo, L., Freeman, C., McVean, G. & Donnelly, P. A fine-scale map of recombination rates and hotspots across the human genome. Science 310, 321-324 (2005).
26. Gabriel, S.B. et al. The structure of haplotype blocks in the human genome. Science 296, 2225-2229 (2002).
27. Chiecchio, L. et al. Deletion of chromosome 13 detected by conventional cytogenetics is a critical prognostic factor in myeloma. Leukemia 20, 1610-1617 (2006).
28. Neben, K. et al. Combining information regarding chromosomal aberrations t(4;14) and del(17p13) with the International Staging System classification allows stratification of myeloma patients undergoing autologous stem cell transplantation. Haematologica 95, 1150-1157 (2010).
29. Walker, B.A. et al. Integration of global SNP-based mapping and expression arrays reveals key regions, mechanisms, and genes important in the pathogenesis of multiple myeloma. Blood 108, 1733-1743 (2006).
30. Dimas, A.S. et al. Common regulatory variation impacts gene expression in a cell type-dependent manner. Science 325, 1246-1250 (2009).
31. Nica, A.C. et al. The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet. 7, e1002003 (2011).
32. Stranger, B.E. et al. Patterns of cis regulatory variation in diverse human populations. PLoS Genet. 8, e1002639 (2012).
33. Stranger, B.E. et al. Genome-wide associations of gene expression variation in humans. PLoS Genet. 1, e78 (2005).
34. Stranger, B.E. et al. Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science 315, 848-853 (2007).
35. Slotta-Huspenina, J. et al. The impact of cyclin D1 mRNA isoforms, morphology and p53 in mantle cell lymphoma: p53 alterations and blastoid morphology are strong predictors of a high proliferation index. Haematologica 97, 1422-1430 (2012).