Gene copy number analysis by multiplexed quantitative differential PCR for BRCA1 and BRCA2 for 23 DNA specimens obtained from patients of Hispanic ancestry.

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Gene copy number analysis by multiplexed quantitative differential PCR for BRCA1 and BRCA2 for 23 DNA specimens obtained from patients of Hispanic ancestry. Gene copy number analysis by multiplexed quantitative differential PCR for BRCA1 and BRCA2 for 23 DNA specimens obtained from patients of Hispanic ancestry. Three samples (1659, 1744, 2025) revealed a deletion of exons 9 to 12 in BRCA1 (boxed in the graph, arrows in the graph legend). A dosage ratio of 0.8 to 1.25 indicates normal copy number (two alleles); a value above 1.3 indicates gain of one allele; and a value less than 0.7 indicates a loss of one allele. Each gene has been arranged 5′ to 3′. Control DNAs are encircled (BRCA1 duplication exon 13; BRCA1 deletion exons 14-20). The elevated ratios of the BRCA2 exons for the del 14-20 control and positive patient samples is a normalization echo created by using the two genes as dosage controls for each other in the multiplexes. Jeffrey N. Weitzel et al. Cancer Epidemiol Biomarkers Prev 2007;16:1615-1620 ©2007 by American Association for Cancer Research