ASSOCIATION OF E-SELECTIN S128R POLYMORPHISM WITH HEREDITARY BREAST CARCINOMA SUSCEPTIBILITY IN TURKISH PATIENTS WITHOUT BRCA1/2 GERMLINE MUTATIONS

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dc.contributor.authorYararbas, K.
dc.contributor.authorAtalay, P. B.
dc.date.accessioned2023-02-21T12:32:52Z
dc.date.available2023-02-21T12:32:52Z
dc.date.issued2018-01-01
dc.description.abstractInherited genetic factors play an important role in breast cancer susceptibility. The BRCA1 and BRCA2 mutations are the most well-known genetic factors associated with increased risk of breast cancer. E-selectin is a cell surface glycoprotein and its serum levels are known to increase in various cancers. The present retrospective study aimed to evaluate whether E-selectin S128R polymorphism (NG\_012124.1: g.7161A>C, NM\_000450.2: c.445A>C, NP\_000441.2: p.Ser149Arg), which is known to have a role in cancer risk, is associated with breast cancer susceptibility in BRCA1/2 mutation non carriers with breast cancer. The study included 90 patients with breast cancer and 270 healthy controls. All breast cancer patients were screened for BRCA1/2 mutations and confirmed to be BRCA 1/2 mutation non carriers before inclusion in the study. Genotyping for the E-selectin S128R polymorphism was performed using real-time polymerase chain reaction (PCR) analysis. The frequencies of the AA, AC and CC genotypes were 70.0, 25.5 and 4.5\%, respectively, in the patient group and 79.25, 19.25 and 1.5\%, respectively, in the controls. The frequencies of A and C alleles were 84.8 and 15.2\% in the patient group, respectively, and 88.9 and 11.1\%. respectively, in the controls. No significant differences were determined in the genotype and allele frequencies of the E-selectin S128R polymorphism between the patient and control groups (p = 0.095). The S128R (A/C) polymorphism was not found to be associated with an increased risk of breast cancer {[}odds ratio (OR) = 0.69
dc.description.abstract95\% confidence interval (95\% CI): 0.43-1.10
dc.description.abstractp = 0.1248). There was no association between the S128R polymorphism and breast cancer susceptibility in BRCA1/2 mutation non carriers with breast cancer in the studied Turkish population. Further studies with larger sample sizes are needed to validate our findings.
dc.description.issue1
dc.description.issueJUN
dc.description.pages27-31
dc.description.volume21
dc.identifier.doi10.2478/bjmg-2018-0004
dc.identifier.urihttps://hdl.handle.net/11443/1298
dc.identifier.urihttp://dx.doi.org/10.2478/bjmg-2018-0004
dc.identifier.wosWOS:000448827400004
dc.publisherMACEDONIAN ACAD SCIENCES ARTS
dc.relation.ispartofBALKAN JOURNAL OF MEDICAL GENETICS
dc.subjectBreast carcinoma
dc.subjectCancer susceptibility
dc.subjectE-selectin
dc.subjectrs5361
dc.titleASSOCIATION OF E-SELECTIN S128R POLYMORPHISM WITH HEREDITARY BREAST CARCINOMA SUSCEPTIBILITY IN TURKISH PATIENTS WITHOUT BRCA1/2 GERMLINE MUTATIONS
dc.typeArticle
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