Balkan Journal of Medical Genetics

ASSOCIATION OF E-SELECTIN S128R POLYMORPHISM WITH HEREDITARY BREAST CARCINOMA SUSCEPTIBILITY IN TURKISH PATIENTS WITHOUT BRCA1/2 GERMLINE MUTATIONS
Yararbas K, Atalay PB
*Corresponding Author: Kanay Yararbas, M.D., Assistant Professor, Department of Medical Genetics, Acibadem Mehmet Ali Aydinlar University Faculty of Medicine; İçerenköy Mahallesi, Kayisdagi Caddesi, No: 32, 34742, Istanbul, Turkey. Tel: +90-216-500-4785. Fax: +90-216-500-5076. E-mail: kanay.yararbas@ acibadem.edu.tr
page: 27

RESULTS

No significant differences were determined in the genotype and allele frequencies of the E-selectin S128R (A/C) polymorphism between the patient and control subjects (Table 1). Of the 90 BRCA1/2 mutation non carrier patients, 63 (70.0%) had the AA genotype and 23 (25.5%) had AC genotypes, and four (4.5%) had the CC genotype. Of 270 controls, 214 (79.25%) had the AA genotype, 52 (19.25%) had the AC genotype, and four (1.5%) had the CC genotype. The frequency of the pathogenic C allele was 31/203 (15.2%) in the patient group and 60/540 (11.1%) in the control group (Table 1); the patient and control groups did not differ in the distribution of the pathogenic C allele. The S128R (A/C) polymorphism was not found to be associated with an increased risk of breast cancer (OR = 0.69; 95% CI: 0.43-1.10; p = 0.1248).

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