Abstract
Materials and methods We used SurePrint G3 human CGH+SNP, 2×400K, microarrays to assess gains and losses in 47 PTCs in comparison to male and female human reference DNA. Interpretation of results was accomplished by using the HG19 version of the design file and the default analysis method of the Cytogenomics 2.7 research software [1]. To compare BRAF mutant (BRAF) PTCs with BRAF wild type (BRAF) PTCs, the BRAF mutational status was established in 42 cases by direct sequencing the mutational hotspot region in exon 15 [2].
Highlights
The valine to glutamate substitution at codon 600 in exon 15 of the BRAF gene (V600E) is the major driver mutation in papillary thyroid carcinomas (PTCs)
To compare BRAF mutant (BRAFmut) PTCs with BRAF wild type (BRAFwt) PTCs, the BRAF mutational status was established in 42 cases by direct sequencing the mutational hotspot region in exon 15 [2]
Number and extent of regions with SNP homozygosity varied widely between the cases. This is one of the first studies using high-density oligonucleotide arrays to survey chromosomal imbalances in conventional BRAFmut and BRAFwt PTCs enabling to detect microdeletions/microamplifications affecting known or yet unknown genes related to thyroid cancer
Summary
From 2nd International Genomic Medical Conference (IGMC 2013) Jeddah, Kingdom of Saudi Arabia. From 2nd International Genomic Medical Conference (IGMC 2013) Jeddah, Kingdom of Saudi Arabia. 24-27 November 2013
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