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Breast cancer risk associated with AURKA 91T -->A polymorphism in relation to BRCA mutations
Authors:Vidarsdottir Linda  Bodvarsdottir Sigridur K  Hilmarsdottir Holmfridur  Tryggvadottir Laufey  Eyfjord Jorunn E
Affiliation:

aMolecular and Cell Biology Research Laboratory, Icelandic Cancer Society, Skogarhlid 8, 105 Reykjavik, Iceland

bDepartment of Medicine, University of Iceland, Vatnsmyrarvegi 16, 101 Reykjavik, Iceland

cCancer Registry, Icelandic Cancer Society, Skogarhlid 8, 105 Reykjavik, Iceland

Abstract:
In this study 759 breast cancer patients, including 9 BRCA1 and 98 BRCA2 mutation carriers, and 653 mutation-negative unaffected controls were genotyped for the AURKA 91T → A polymorphism. Individuals homozygous for the 91A allele were found to be at increased risk of breast cancer compared to 91T homozygotes (OR = 1.87; 95% CI = 1.09–3.21). This association was strengthened when cases carrying BRCA mutations were excluded (OR = 2.00; 95% CI = 1.15–3.47). BRCA carrier cases differed from sporadic cases and their allele distribution was very similar to controls. These results show a statistically significant increased risk of sporadic breast cancer for individuals that are homozygous for the 91A allele but no effect in carriers of BRCA mutations. This may throw light on previously conflicting results.
Keywords:Aurora kinase A polymorphism   Breast cancer risk   BRCA   Allele-specific amplification   Hormone receptor status
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