title: Association of the nibrin gene (NBN) variants with breast cancer.
abstract: Nibrin, encoded by theNBNgene, participates in DNA repair. Mutations in theNBNgene lead to Nijemen breakage syndrome, which may result in several types of diseases, particularly susceptibility to cancer, including breast cancer. Polymorphic variants and defective mutations occurring in theNBNgene increase the risk of breast cancer through the double-stranded break repair mechanism. The aim of the present study was to investigate a possible association between breast cancer andNBNgenetic variants,NBN924 T>C, 8360 G>C and 30537 G>C, in women with breast cancer. Locus-specific primers were designed to study 3 genetic variants in DNA samples isolated from peripheral blood samples of 101 women with breast cancer and 115 healthy controls. Subsequently, 3 polymerase chain reaction-restriction fragment length polymorphism methods were performed and the obtained results were statistically analysed. TheNBNgene 924 T>C variant was found to be significantly associated with breast cancer (χ2=5.722, P=0.017). There were no statistically significant differences between cases and controls in theNBNgene 8360 G>C variant (χ2=1,125, P=0.570) or theNBNgene 30537 G>C variant (χ2=4.301, P=0.116). In conclusion, theNBNgene 924 T>C variant may be a genetic risk factor for breast cancer development in women with breast cancer.
authors.affiliation: Department of General Surgery, Faculty of Medicine, University of Kocaeli, Kocaeli 41380, Turkey.
authors.forename: Hakan
authors.initials: H
authors.lastname: Uzunoglu
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, University of Kocaeli, Kocaeli 41380, Turkey.
authors.forename: Tugcan
authors.initials: T
authors.lastname: Korak
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, University of Kocaeli, Kocaeli 41380, Turkey.
authors.forename: Emel
authors.initials: E
authors.lastname: Ergul
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, University of Kocaeli, Kocaeli 41380, Turkey.
authors.forename: Nihal
authors.initials: N
authors.lastname: Uren
authors.affiliation: Department of Medical Biology and Genetics, Faculty of Medicine, University of Kocaeli, Kocaeli 41380, Turkey.
authors.forename: Ali
authors.initials: A
authors.lastname: Sazci
authors.affiliation: Department of General Surgery, Faculty of Medicine, University of Kocaeli, Kocaeli 41380, Turkey.
authors.forename: N Zafer
authors.initials: NZ
authors.lastname: Utkan
authors.affiliation: Department of General Surgery, Faculty of Medicine, University of Kocaeli, Kocaeli 41380, Turkey.
authors.forename: Ertuğrul
authors.initials: E
authors.lastname: Kargi
authors.affiliation: Department of General Surgery, Faculty of Medicine, University of Kocaeli, Kocaeli 41380, Turkey.
authors.forename: Çağri
authors.initials: Ç
authors.lastname: Triyaki
authors.affiliation: Department of General Surgery, Faculty of Medicine, University of Kocaeli, Kocaeli 41380, Turkey.
authors.forename: Oktay
authors.initials: O
authors.lastname: Yirmibesoglu
keywords: Turkey; association; breast cancer; nibrin; polymorphism; single-nucleotide polymorphism