Abstract
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.
MeSH terms
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BRCA1 Protein / genetics*
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BRCA2 Protein / genetics*
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Breast Neoplasms / ethnology
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Breast Neoplasms / genetics*
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Breast Neoplasms, Male / ethnology
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Breast Neoplasms, Male / genetics*
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Checkpoint Kinase 2
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Female
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Gene Rearrangement*
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Genetic Predisposition to Disease
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Genetic Testing*
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Humans
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Male
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Mass Screening / methods*
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Nucleic Acid Amplification Techniques*
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Ovarian Neoplasms / ethnology
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Ovarian Neoplasms / genetics*
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Pedigree
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Protein Serine-Threonine Kinases / genetics
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Risk Assessment
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Risk Factors
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Sequence Deletion
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Turkey
Substances
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BRCA1 Protein
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BRCA2 Protein
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BRCA2 protein, human
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Checkpoint Kinase 2
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CHEK2 protein, human
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Protein Serine-Threonine Kinases