Changes in DNA copy number contribute
to cancer pathogenesis. We now show that high-density single nucleotide
polymorphism (SNP) arrays can detect copy number alterations.
By hybridizing genomic representations of breast and lung carcinoma cell
line and lung tumor DNA to SNP arrays and measuring locus-specific hybridization
intensity, we detected both known and novel genomic amplifications and
homozygous deletions in these cancer samples. Moreover, by combining
genotyping with SNP quantitation, we could distinguish loss-of-heterozygosity (LOH)
events caused by hemizygous deletion from those that occur by copy-neutral
events. The simultaneous measurement of DNA copy number changes and LOH
events by SNP arrays should strengthen our ability to discover cancer-causing
genes and to refine cancer diagnosis.