Glossary Term
Loss of Heterozygosity
PCR TermsEN
Definition
A genetic variation where gain, loss, or exchange of DNA results in monoallelic loss of function mutations in a diploid cell. In the context of tumor suppressor genes, where a single copy is sufficient for functionality, loss of function for the second allele is associated with tumorigenesis.
Extended Notes
Source: National Cancer Institute, NCI Thesaurus 26.09d, C18016. NCI definition, reproduced without modification under CC BY 4.0. Source identity and definition checked automatically on 2026-10-20. No individual clinical interpretation or human reviewer is asserted.
Also Known As
LOHLoss of Heterozygosity