title: The impact of the stromal cell-derived factor-1-3'A and E-selectin S128R polymorphisms on breast cancer.
abstract: Breast cancer is prone to metastasis even in early stage disease. Stromal cell-derived factor-1 (SDF-1) is a chemokine that has been associated with the egress of cancer cells from the primary focus and homing to distant sites, while E-selectin has been implicated in their trans-endothelial migration. This study was performed to evaluate the association between SDF-1-3'A and E-selectin S128R-two polymorphisms associated with enhanced function-and the risk of breast cancer, as well as their influence on breast cancer outcome. A retrospective analysis was conducted on 261 patients and 480 healthy controls using PCR-RFLP. The frequencies for the wild-type (GG), GA and AA genotypes of SDF-1 were 43.7, 45.2, and 11.1 % in patients, and 51.5, 41.3, and 7.3 % in healthy controls, respectively, while the SDF-1-3'A allelic frequency was 33.7 % at patients and 27.9 % at controls. The SDF-1-3'A carrier group of patients and the A allele of SDF-1 were overrepresented among the breast cancer cases (p = 0.04 and 0.02, respectively). For the E-selectin S128R polymorphism, the frequencies for the wild-type (AA), AC and CC genotypes were 58.6, 38.3, and 3.1 % in patients and 63.8, 31.4, and 3.8 % in controls, respectively, while the C allelic frequency was 22.2 % for patients and 19.5 % for controls. The CC genotype was associated with poorer survival. Otherwise, no significant association was detected between examined genotypes and tumor characteristics. Overall, our findings support that the SDF-1-3'A confers increased susceptibility to breast cancer and that the E-selectin S128R CC genotype may be related to poorer prognosis. Investigation in bigger cohorts of patients is warranted.
authors.affiliation: First Propaedeutic Surgical Department, Hippocration University Hospital, 7 Semitelou Street, 11528 Athens, Greece.
authors.forename: Panagiota
authors.initials: P
authors.lastname: Kontogianni
authors.forename: Constantinos P
authors.initials: CP
authors.lastname: Zambirinis
authors.forename: George
authors.initials: G
authors.lastname: Theodoropoulos
authors.forename: Maria
authors.initials: M
authors.lastname: Gazouli
authors.forename: Nikolaos V
authors.initials: NV
authors.lastname: Michalopoulos
authors.forename: John
authors.initials: J
authors.lastname: Flessas
authors.forename: Maria
authors.initials: M
authors.lastname: Liberi
authors.forename: George C
authors.initials: GC
authors.lastname: Zografos
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001943:Breast Neoplasms / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D016022:Case-Control Studies; D054377:Chemokine CXCL12 / Q000235:genetics*; D019040:E-Selectin / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D060787:Neoplasm Grading; D009367:Neoplasm Staging; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis
chemical_list: D054377:Chemokine CXCL12; D019040:E-Selectin