The c.469+46_56del mutation in the homeobox MSX1 gene--a novel risk factor in breast cancer?

Autor: Sliwinski T; Department of Molecular Genetics, University of Lodz, Banacha 12/16, 90-237 Lodz, Poland., Synowiec E, Czarny P, Gomulak P, Forma E, Morawiec Z, Morawiec J, Dziki L, Wasylecka M, Blasiak J
Jazyk: angličtina
Zdroj: Cancer epidemiology [Cancer Epidemiol] 2010 Oct; Vol. 34 (5), pp. 652-5. Date of Electronic Publication: 2010 Jul 17.
DOI: 10.1016/j.canep.2010.06.003
Abstrakt: Purpose: The aim of this study was to investigate the association of a 11 nucleotide deletion, the c.469+46_56del mutation, in the intron of the homeobox MSX1 gene and breast cancer occurrence and characteristics.
Methods: The mutation was genotyped in peripheral blood lymphocytes of 200 breast cancer patients and 203 controls by single-strand conformational PCR and DNA sequencing.
Results: The del/del variant of the c.469+46_56del mutation increased the risk of breast cancer occurrence (OR 2.20; 95% CI 1.41-3.44, p<0.05). We did not observe any association between genotypes of this mutation and lymph node status, Bloom-Richardson grading, estrogen and progesterone receptors and HER2 expression.
Conclusions: The del/del genotype of the c.469+46_56del mutation in the MSX1 gene may be associated with the increased risk of breast cancer in Polish population and may be considered as an early marker in this disease.
(Copyright © 2010 Elsevier Ltd. All rights reserved.)
Databáze: MEDLINE
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