AI Article Synopsis
- Hereditary breast and ovarian cancer (HBOC) syndrome is primarily linked to mutations in specific genes, with focus on the genetic variations in 3'UTR regions that affect microRNA binding and regulation.
- A study involving blood samples from 50 HBOC patients and 50 controls identified nine polymorphisms in these regions, with three variants significantly increasing the risk of developing HBOC.
- The findings suggest that these genetic variants can influence microRNA binding, highlighting their role in the development of HBOC.
Article Abstract
Hereditary breast and ovarian cancer (HBOC) syndrome is mainly caused by mutations in the and 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 and genes in HBOC patients. Blood samples were obtained from 50 patients with HBOC and from 50 controls. The 3'UTR regions of and were amplified by PCR and sequenced to identify genetic variants using bioinformatics tools. We detected nine polymorphisms in 3'UTR, namely: four in (rs3092995 (C/G), rs8176318 (C/T), rs111791349 (G/A), and rs12516 (C/T)) and five in (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 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; < 0.05). Genetic variants into the 3'UTR of and 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 3'UTR or the hsa-miR-548 family binding site in . Our results add new evidence of miRNA participation in the pathogenesis of HBOC.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7277914 | PMC |
| http://dx.doi.org/10.3390/diagnostics10050298 | DOI Listing |
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