Application of SNP genotype arrays to determine somatic changes in cancer

Genetic abnormalities in leukaemia range from single gene defects to chromosomal translocations, inversions, losses and gains. While conventional technologies can detect macroscopic abnormalities, finding smaller regions remained a challenge until the recent introduction of high-resolution genomic platforms. Microarrays based on single nucleotide polymorphisms is one such technology. It has made possible genome-wide allelic association studies of predisposition to common clinical problems. This approach is also being used to identify somatic changes in cancer, such as loss, gain and copy-neutral loss of heterozygosity (CN-LOH), which are below the level of detection by conventional systems. Such arrays have been used to identify key genes involved in paediatric acute lymphoblastic leukaemia. We have used these arrays to identify regions of CN-LOH on a genome-wide scale in a large series of acute myeloid leukaemia samples, which so far has not been possible through any other technology.