rs2228611, rs2228612 and rs2276598, rs752208 Polymorphisms and Their Association with Breast Cancer Phenotype and Prognosis.

: Breast cancer is a leading cause of cancer-related deaths globally. This study investigates the impact of genetic polymorphisms in DNA methyltransferases ( and ) on breast cancer pathomorphology and patient prognosis. Specifically, we focused on polymorphisms rs2228611 and rs2228612 and polymorphisms rs2276598 and rs752208. : Conducted at the Institute of Oncology of the Lithuanian University of Health Sciences, this study included 201 Lithuanian women with early-stage breast cancer. DNA was extracted from peripheral blood samples, and genotyping for the specified polymorphisms was performed using the PCR-RFLP assay. Statistical analyses were applied to evaluate associations between polymorphisms and clinicopathological characteristics. : The non-carriers of the rs2228611 G allele were less likely to be diagnosed at an older age, while the rs752208 T allele was linked to lower-grade tumors. Survival analysis indicated a potential relationship between rs752208 and overall survival, although no significant findings were observed in progression-free or metastasis-free survival. : This study suggests that the and polymorphisms may influence breast cancer pathomorphology and prognosis. The rs2228611 G allele may be associated with earlier onset, and the rs752208 T allele might correlate with less aggressive tumors. These findings underscore the potential of gene polymorphisms as prognostic biomarkers in breast cancer, warranting further investigation with larger sample sizes.