engleski

Computational analysis of 5' and 3' untranslated regions of breast cancer genes BRCA1 and BRCA2

Untranslated regions (UTRs) are parts of the mature mRNA located before the start codon (5' UTR) and after the stop codon (3' UTR). They are transcribed with the coding region but they are not translated. Several regulatory roles have been assigned to the untranslated regions, including mRNA's localization and stability, and translational efficiency. These functions depend on the sequence and the structure of the UTR. BRCA1 and BRCA2 are the major hereditary breast/ovarian cancer predisposing genes and their mutations increase the risk of developing cancer. Interpretation of sequence variants found in genetic testing is the major concern for BRCA genes, especially for risk assessment in genetic counseling. From different repositories (dbSNP, BIC, kConFab), we collected BRCA1 and BRCA2 sequence variants that were found within 5' and 3' UTRs and we analyzed, using different on-line tools like UTResource and Transterm, their potential functional significance that could be expressed by disrupting or creating putative regulatory elements. As it is known that the function of non-coding RNAs (ncRNAs) greatly depends on their secondary structure, we analyzed how these non-coding sequence variants could have impact on the predicted secondary structure. By analyzing changes in the predicted secondary structures of the 5' and 3' UTRs from the patients with breast/ovarian cancer we tried to find out if this approach could be used for assessing clinical significance in cancer etiology.

RNA secondary structure ; 5' and 3' UTRs ; breast cancer ; BRCA1 and BRCA2

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