Investigation of effects of PALB2 genetic variations on breast cancer predisposition

Abstract

Purpose: In this study, the effects of three different single nucleotide polymorphisms (rs249954, rs249935, and rs16940342) of partner and localizer of breast cancer gene 2 (PALB2) on breast cancer predisposition have been investigated. Materials and Methods: For this purpose, 150 patients diagnosed to have breast cancer and 150 healthy individuals have been included. By using real time polymerase chain reaction (PCR) method isolated deoxyribonucleic acid (DNA) from each case has been investigated for the PALB2 genetic variations. Results: The distribution of homozygote wild type (AA) and heterozygote (AG) genotypes at rs16940342 polymorphism has been observed to be 44.7\% and 55.3\% in breast cancer group and 32.7\% and 67.3\% in control group. The homozygote polymorphic (GG) genotype was not observed in both groups. The discrepancy between the groups in terms of genotype distribution regarding rs16940342 polymorphism has been found statistically significant. However, there was no significant difference in the frequencies of rs249954 and rs249935 polymorphisms comparing both groups. Conclusion: These results show that rs16940342 polymorphism may be an important determinant in terms of breast cancer predisposition in the Turkish population.