Published January 1, 2011
| Version v1
Journal article
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Genomic Large Rearrangement Screening of BRCA1 and BRCA2 Genes in High-Risk Turkish Breast/Ovarian Cancer Patients by Using Multiplex Ligation-Dependent Probe Amplification Assay
Creators
- 1. Akdeniz Univ, Fac Med, Dept Med Biol, TR-07070 Antalya, Turkey
- 2. Gulhane Mil Med Acad, Dept Med Biol, Ankara, Turkey
- 3. Gazi Univ, Fac Med, Dept Internal Med, Ankara, Turkey
- 4. Akdeniz Univ, Fac Med, Dept Obstet & Gynecol, TR-07070 Antalya, Turkey
- 5. Akdeniz Univ, Fac Med, Dept Surg, TR-07070 Antalya, Turkey
- 6. Akdeniz Univ, Fac Med, Dept Biostat, TR-07070 Antalya, Turkey
Description
In this study, MLPA assay was performed for detection of large rearrangements of BRCA1 and BRCA2 genes in 16 familial, 29 early onset, 3 male breast cancer, and 2 bilateral breast/ovarian cancer high risk Turkish index cases. MLPA assay for all exons of both genes and for 1100delC variant of CHEK2 gene were performed. Analyses, revealed no large genomic rearrangements in both genes, and, no 1100del variant in CHEK2 gene. Our data which represents the first results for Turkish patients, suggest that, the frequency of BRCA1 and BRCA2 genes' large rearrangements is very low.
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