| Summary: | Hereditary breast and ovarian cancer (HBOC) syndrome is mainly caused by mutations in the <i>BRCA1</i> and <i>BRCA2</i> genes. The 3’UTR region allows for the binding of microRNAs, which are involved in genetic tune regulation. We aimed to identify allelic variants on 3’UTR miRNA-binding sites in the <i>BRCA1</i> and <i>BRCA2</i> genes in HBOC patients. Blood samples were obtained from 50 patients with HBOC and from 50 controls. The 3’UTR regions of <i>BRCA1</i> and <i>BRCA2</i> were amplified by PCR and sequenced to identify genetic variants using bioinformatics tools. We detected nine polymorphisms in 3’UTR, namely: four in <i>BRCA1</i> (rs3092995 (C/G), rs8176318 (C/T), rs111791349 (G/A), and rs12516 (C/T)) and five in <i>BRCA2</i> (rs15869 (A/C), rs7334543 (A/G), rs1157836 (A/G), and rs75353978 (TT/del TT)). A new variant in position c.*457 (A/C) on 3’UTR of <i>BRCA2</i> was also identified. The following three variants increased the risk of HBOC in the study population: rs111791349-A, rs15869-C, and c.*457-C (odds ratio (OR) range 3.7–15.4; <i>p</i> < 0.05). Genetic variants into the 3’UTR of <i>BRCA1</i> and <i>BRCA2</i> increased the risk of HBOC between 3.7–15.4 times in the study population. The presence/absence of these polymorphisms may influence the loss/creation of miRNA binding sites, such as hsa-miR-1248 in <i>BRCA1</i> 3′UTR or the hsa-miR-548 family binding site in <i>BRCA2</i>. Our results add new evidence of miRNA participation in the pathogenesis of HBOC.
|
|---|