- Volume 15 Issue 19
DOI QR Code
Evaluation of Genetic Variations in miRNA-Binding Sites of BRCA1 and BRCA2 Genes as Risk Factors for the Development of Early-Onset and/or Familial Breast Cancer
- Erturk, Elif (Department of Medical Biology, Faculty of Medicine, Uludag University) ;
- Cecener, Gulsah (Department of Medical Biology, Faculty of Medicine, Uludag University) ;
- Polatkan, Volkan (Department of General Surgery, Faculty of Medicine, Uludag University) ;
- Gokgoz, Sehsuvar (Department of General Surgery, Faculty of Medicine, Uludag University) ;
- Egeli, Unal (Department of Medical Biology, Faculty of Medicine, Uludag University) ;
- Tunca, Berrin (Department of Medical Biology, Faculty of Medicine, Uludag University) ;
- Tezcan, Gulcin (Department of Medical Biology, Faculty of Medicine, Uludag University) ;
- Demirdogen, Elif (Department of Medical Biology, Faculty of Medicine, Uludag University) ;
- Ak, Secil (Department of Medical Biology, Faculty of Medicine, Uludag University) ;
- Tasdelen, Ismet (Department of General Surgery, Faculty of Medicine, Uludag University)
- Published : 2014.10.23
Although genetic markers identifying women at an increased risk of developing breast cancer exist, the majority of inherited risk factors remain elusive. Mutations in the BRCA1/BRCA2 gene confer a substantial increase in breast cancer risk, yet routine clinical genetic screening is limited to the coding regions and intronexon boundaries, precluding the identification of mutations in noncoding and untranslated regions. Because 3' untranslated region (3'UTR) polymorphisms disrupting microRNA (miRNA) binding can be functional and can act as genetic markers of cancer risk, we aimed to determine genetic variation in the 3'UTR of BRCA1/BRCA2 in familial and early-onset breast cancer patients with and without mutations in the coding regions of BRCA1/BRCA2 and to identify specific 3'UTR variants that may be risk factors for cancer development. The 3'UTRs of the BRCA1 and BRCA2 genes were screened by heteroduplex analysis and DNA sequencing in 100 patients from 46 BRCA1/2 families, 54 non-BRCA1/2 families, and 47 geographically matched controls. Two polymorphisms were identified. SNPs
Breast cancer;BRCA1;BRCA2;3'UTR;SNP;early onset;Turkey
Supported by : Uludag University
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