- Volume 14 Issue 5
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Identification of a Novel BRCA2 and CHEK2 A-C-G-C Haplotype in Turkish Patients Affected with Breast Cancer
- Haytural, Hazal (Department of Neuroscience, Institute for Experimental Medicine Research, Istanbul University) ;
- Yalcinkaya, Nazli (Department of Neuroscience, Institute for Experimental Medicine Research, Istanbul University) ;
- Akan, Gokce (Molecular Endocrinology Laboratory, Department of Growth-Development and Pediatric Endocrinology, Child Health Institute, Istanbul University) ;
- Arikan, Soykan (Department of General Surgery, Istanbul Training and Research Hospital) ;
- Ozkok, Elif (Department of Neuroscience, Institute for Experimental Medicine Research, Istanbul University) ;
- Cakmakoglu, Bedia (Department of Molecular Medicine, Institute for Experimental Medicine Research, Istanbul University) ;
- Yaylim, Ilhan (Department of Molecular Medicine, Institute for Experimental Medicine Research, Istanbul University) ;
- Aydin, Makbule (Department of Neuroscience, Institute for Experimental Medicine Research, Istanbul University) ;
- Atalar, Fatmahan (Molecular Endocrinology Laboratory, Department of Growth-Development and Pediatric Endocrinology, Child Health Institute, Istanbul University)
- Published : 2013.05.30
Background: Many breast cancers are caused by certain rare and familial mutations in the high or moderate penetrance genes BRCA1, BRCA2 and CHEK2. The aim of this study was to examine the allele and genotype frequencies of seven mutations in BRCA1, BRCA2 and CHEK2 genes in breast cancer patients and to investigate their isolated and combined associations with breast cancer risk. Methods: We genotyped seven mutations in BRCA1, BRCA2 and CHEK2 genes and then analyzed single variations and haplotype associations in 106 breast cancer patients and 80 healthy controls. Results: We found significant associations in the analyses of CHEK2- 1100delC (p=0.001) and BRCA1-5382insC (p=0.021) mutations in breast cancer patients compared to controls. The highest risk was observed among breast cancer patients carrying both CHEK2-1100delC and BRCA2- Met784Val mutations (OR=0.093; 95%CI 0.021-0.423; p=0.001). We identified one previously undescribed BRCA2 and a CHEK2 four-marker haplotype of A-C-G-C which was overrepresented (
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