Carcinogenesis Advance Access originally published online on February 13, 2007
Carcinogenesis 2007 28(7):1442-1445; doi:10.1093/carcin/bgm033
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Copy number variant in the candidate tumor suppressor gene MTUS1 and familial breast cancer risk
1 Division of Molecular Genetic Epidemiology
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, University Hospital of Cologne, Germany
7 Department of Gynaecology and Obstetrics, Klinikum rechts der Isar, Technical University, Munich, Germany
8 Institute of Transfusion Medicine and Immunology, Red Cross Blood Service of Baden-Württemberg-Hessia, Faculty of Clinical Medicine, University of Heidelberg, Mannheim, Germany
* To whom correspondence should be addressed. Tel: +49 6221 421461; Fax: +49 6221 421455; Email: b.frank{at}dkfz.de
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 (odds ratio (OR) = 0.58, 95% confidence interval (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.
Abbreviations: BC, breast cancer; CI, confidence interval; CNV, copy number variant; MTUS1, mitochondrial tumor suppressor gene 1; OR, odds ratio; PCR, polymerase chain reaction
Received October 27, 2006; revised January 25, 2007; accepted February 7, 2007.
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