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

DISCUSSION

E-selectin is involved in cancer metastasis by regulating the adhesion of circulating cancer cells to the endothelial cells of blood vessels [10]. Currently, several SNPs of the E-selectin gene have been identified. The S128R polymorphism (A>C variation), the most common SNP of the E-selectin gene, facilitates ligand binding, which in turn increases the adhesion of lymphoid and myeloid cells to the endothelium. The E-selectin S128R polymorphism is associated with an increased risk of several cancers including gastric [25,26], colorectal [27] and pancreatic [28] cancers. However, a very limited number of studies investigating the association of the E-selectin S128R polymorphism with breast cancer susceptibility have revealed contradictory results. Kontogianni et al. [29] reported that the E-selectin S128R genotypes (AA, AC, and CC) were not associated with any of the tumor parameters in a Caucasian population. On the other hand, Naidu et al. [30] reported that women carrying the E-selectin S128R polymorphism showed a significantly increased breast cancer risk in an Asian population. Different results from these studies may imply that the effects of the S128R polymorphism on breast cancer susceptibility may be population-dependent. In the present study, we examined whether the S128R polymorphism is associated with susceptibility to breast carcinoma in BRCA1/2 mutation non carriers with breast cancer in the Turkish population. This study is the first to investigate the association between the E-selectin S128R polymorphism and breast cancer in the Turkish population as well as to investigate the association of the E-selectin S128R polymorphism with development of breast cancer in the absence of BRCA1/2 mutations. For this purpose, 90 BRCA1/2 mutation non carriers with breast cancer and 270 controls with no previous cancer history, were genotyped using RT-PCR. The results of the present study demonstrated that the E-selectin S128R polymorphism was not associated with an increased risk of breast cancer in BRCA1/2 mutation non carriers with breast cancer in the Turkish population. Further studies with larger sample sizes are required to reveal the association between the E-selectin S128R polymorphism and breast cancer risk in the absence and presence of BRCA1/2 mutations.



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