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

Cancer Epidemiology
Tomasz SliwinskiJanusz Blasiak

Abstract

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. The mutation was genotyped in peripheral blood lymphocytes of 200 breast cancer patients and 203 controls by single-strand conformational PCR and DNA sequencing. 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. 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.

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Jul 6, 2013·Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopädie : Organ/official Journal Deutsche Gesellschaft Für Kieferorthopädie·Sabine RufSarah Jabir
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