Loss of heterozygosity (LOH) is a form of genetic mutation that results in the loss of one normal copy of a gene or a set of genes. Loss of heterozygozity can lead to the development of cancer in some circumstances.
LOH is a typical kind of allelic imbalance in which a heterozygous somatic cell becomes homozygous because one of the two alleles is lost. This kind of chromosomal instability is sufficient to confer selective growth advantage and has been identified as a primary cause of cancer.
When a cancer-producing gene that is heterozygous becomes exposed due to deletion, mutation, recombination, uniparental disomy, or chromosomal aberration, this is referred to as loss of heterozygosity.
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