The miRNA binding site SNP in the 3′ UTR of NBS1 is inversely associated with breast cancer risk

Aim

Nijmegen breakage syndrome 1 (NBS1), also known as NBN, participates in cellular response to DNA damage and maintaining genomic stability. Functional polymorphisms located at a microRNA binding site in the 3′ UTR of NBS1 have been frequently studied in various cancers, but the results are inconsistent. The aim of the present study was to test a possible association between breast cancer risk and the NBS1 genetic variant, NBS1 rs2735383 541G > C, by performing a case–control study in an Iranian population.

Materials & methods

Allele-specific primer PCR method was utilized to genotype the genetic variant in 129 women with breast cancer and 117 healthy controls. The association tests with risk of breast cancer were examined by logistic regression.

Results

The NBS1 rs2735383 541G > C polymorphism was inversely associated with breast cancer (GC + CC vs GG, OR = 0.42, 95% C.I = 0.25–0.72, P value = 0.001; C vs G allele, OR = 0.43, 95% C.I = 0.29–0.62, P value < 0.001) and also lymph node metastasis (GC + CC vs GG, OR = 0.23, 95% C.I = 0.11–0.52, P value < 0.001).

Conclusion

The rs2735383 variant may be a genetic modifier for breast cancer development in Iranians.