Association of MALAT1 rs619586 and rs3200401 single-nucleotide polymorphisms with breast cancer risk in Egyptian women

BACKGROUND: MALAT1 (long non-coding RNA) is associated with growth and proliferation of breast cancer (BC). Functional single-nucleotide polymorphisms in MALAT1 may regulate an individual's susceptibility to cancer. Little is known regarding MALAT1 polymorphisms and the risk of BC in Egyptian women. OBJECTIVES: This study aims to determine the relationship between MALAT1 polymorphisms (rs619586 and rs3200401) and the risk of BC among Egyptian women, as well as clinicopathology and survival rates. METHODS: A case-control study was conducted involving 50 women with confirmed BC and 50 age-matched controls. ELISA was used to measure serum CA 15-3 and carcinoembryonic antigen (CEA). A TaqMan discrimination assay was performed to study MALAT1 SNPs (rs619586 and rs3200401). RESULTS: The G allele at rs619586 and the AG genotype were significantly more prevalent in controls and were associated with a reduced risk of breast cancer. On the other hand, there was no significant link between rs3200401 genotypes and alleles and the risk of BC. The AA genotype of the rs619586 was associated with higher tumor grade. CONCLUSION: These findings suggest an association between rs619586 and the risk of BC in Egyptian women; however, larger, multicenter studies evaluating functional effects should be conducted.