Genetic variation in the major mitotic checkpoint genes does not affect familial breast cancer risk |
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| Authors: | Annika Vaclavicek Justo Lorenzo Bermejo Barbara Wappenschmidt Alfons Meindl Christian Sutter Rita K. Schmutzler Marion Kiechle Peter Bugert Barbara Burwinkel Claus R. Bartram Kari Hemminki Asta Försti |
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| Affiliation: | (1) Division of Molecular Genetic Epidemiology C050, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120 Heidelberg, Germany;(2) Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, Center of Molecular Medicine (CMMC) Cologne, University Hospital of Cologne, Cologne, Germany;(3) Department of Gynaecology and Obstetrics, Klinikum rechts der Isar at the Technical University, Munich, Germany;(4) Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany;(5) Institute of Transfusion Medicine and Immunology, Red Cross Blood Service of Baden-Württemberg-Hessia, Faculty of Clinical Medicine, University of Heidelberg, Mannheim, Germany;(6) Helmholtz-University Group Molecular Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany;(7) Center for Family and Community Medicine, Karolinska Institute, Huddinge, Sweden |
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| Abstract: | ![]()
Aneuploidy, an aberrant number of chromosomes, is a very common characteristic of many types of cancers, including tumors of the breast. There is increasing evidence that defects in the spindle assembly checkpoint, which controls correct chromosome segregation between two daughter cells, might contribute to tumorigenesis. In the present study we examined the effect of promoter and coding single nucleotide polymorphisms (SNPs) in six major spindle checkpoint genes (BUB1B, BUB3, CENPE, MAD2L1, MAD2L2, TTK) on familial breast cancer (BC) risk. A case–control study was carried out with a total of nine SNPs using 441 German, familial BC cases and 552 controls matched by age, ethnicity and geographical region. Neither the individual SNPs in the studied genes nor the haplotypes in the BUB1B, CENPE and TTK genes caused any significant effect on the risk of BC. We used the multifactor-dimensionality reduction method in order to identify gene-gene interactions among the six mitotic checkpoint genes, but no association was detected. Therefore, our results indicate that the investigated SNPs in the mitotic checkpoint genes do not affect the risk of familial BC. |
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| Keywords: | Breast cancer Case− control study Mitotic checkpoint Single nucleotide polymorphisms |
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