Background and purpose: Malignant breast cancer is the second cause of death in women in the world. Studies revealed different controversial results regarding the carcinogenesis role of allelic polymorphism of codon V57I of AURKA gene. The present study aimed to determine the genotypic polymorphisms in codon V57I of AURKA gene in women with invasive carcinoma compared to those in healthy controls in Sabzevar, Iran.

Materials and methods: A case-control study was conducted in 200 individuals with invasive breast carcinoma (n=100) and healthy women (n=100). DNA samples were extracted and the codon V57I of AURKA gene was amplified by PCR. The different genotypes were analyzed by restriction fragment length polymorphism (PCR-RFLP) using BstUI enzyme. Data was analyzed in SPSS V.16, applying Hardy-Weinberg and chi-squares test.

Results: The frequencies of the homozygote valine/valine (Val/Val) in patients and controls were 76(38%) and 68(30%), respectively. The heterozygote valine/isoleucine (Val/Ile) frequencies were 17(8.5%) and 30(15%) in patients and controls, respectively. The frequency of homozygote isoleucine/isoleucine (Ile/ Ile) was 7(3.5%) in patients and 2(1%) in healthy samples. A significant difference was found between patients with malignancy and healthy controls (P<0.03).

Conclusion: The homozygote forms of codon V57I in AURKA gene were more prevalent compared to heterozygote genotypes. Therefore, identification of genotypes and polymorphisms in AURKA gene could be of great benefit in prognosis, diagnosis and treatment of breast cancer.