Carcinogenesis Advance Access published online on February 13, 2007
Carcinogenesis, doi:10.1093/carcin/bgm033
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk
1 Division of Molecular Genetic Epidemiology, German Cancer Research Center, DKFZ, Heidelberg, Germany
2 Helmholtz-University Group Molecular Epidemiology, German Cancer Research Center, DKFZ, Heidelberg, Germany
3 Center for Family Medicine, Karolinska Institute, Huddinge, Sweden
4 Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
5 Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, Clinical Center University of Cologne, Germany
6 Center of Molecular Medicine Cologne (CMMC), University Hospital of Cologne, Germany
7 Department of Gynaecology and Obstetrics, Klinikum rechts der Isar at the Technical University, Munich, Germany
8 Institute of Transfusion Medicine and Immunology, Red Cross Blood Service of Baden-Württemberg-Hessia, University of Heidelberg, Faculty of Clinical Medicine, Mannheim, Germany
Corresponding author: Bernd Frank, German Cancer Research Center (DKFZ), Division of Molecular Genetic Epidemiology, Im Neuenheimer Feld 580, 69120 Heidelberg, Germany, E-mail: b.frank{at}dkfz.de, Tel.: +49-6221-421461, Fax: +49-6221-421455
Copy number variants (CNVs) - insertions, deletions and duplications - contribute considerably to human genetic variation and disease development. A recent study has characterized 100 CNVs, including a deletion in the mitochondrial tumor suppressor gene 1 (MTUS1) lacking the coding exon 4. MTUS1 maps to chromosome 8p, a region frequently deleted and associated with disease progression in human cancers, including breast cancer (BC). To investigate the effect of the MTUS1 CNV on familial BC risk, we analyzed 593 BC patients and 732 control individuals using a case-control study design. We found a significant association of the deletion variant with a decreased risk for both familial and high-risk familial BC (OR = 0.58, 95% CI = 0.37-0.90, P = 0.01 and OR = 0.41, 95% CI = 0.23-0.74, P = 0.003), supporting its role in human cancer. To our knowledge, the present study is the first to determine the impact of a CNV in a tumor suppressor gene on cancer risk.
Key Words: Copy number variant • deletion • tumor suppressor • MTUS1 • breast cancer risk
Received October 27, 2006; revised January 25, 2007; accepted February 7, 2007.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  T. Adamovic, D. McAllister, V. Guryev, X. Wang, J. W. Andrae, E. Cuppen, H. J. Jacob, and S. L. Sugg Microalterations of Inherently Unstable Genomic Regions in Rat Mammary Carcinomas as Revealed by Long Oligonucleotide Array-Based Comparative Genomic Hybridization Cancer Res., June 15, 2009; 69(12): 5159 - 5167. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. R. Hayes, B. M. Young, and M. T. Pletcher Expression Quantitative Trait Loci Mapping Identifies New Genetic Models of Glutathione S-Transferase Variation Drug Metab. Dispos., June 1, 2009; 37(6): 1269 - 1276. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T. Fujita, M. Mogi, L.-J. Min, J. Iwanami, K. Tsukuda, A. Sakata, H. Okayama, M. Iwai, C. Nahmias, J. Higaki, et al. Attenuation of Cuff-Induced Neointimal Formation by Overexpression of Angiotensin II Type 2 Receptor-Interacting Protein 1 Hypertension, April 1, 2009; 53(4): 688 - 693. [Abstract] [Full Text] [PDF]
|
|