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
References
- NCI Thesaurus 26.09d — Loss of Heterozygosity (C18016)
- Source: National Cancer Institute, NCI Thesaurus 26.09d, C18016. NCI definition, reproduced without modification under CC BY 4.0.
- Loss of Heterozygosity and Microsatellite Instability in Diffuse Astrocytic Gliomas: Retrospective Reinterpretation of PCR-Based Molecular Data From a Pre-IDH-Era Korean Cohort. — Neuropathology, 2026-10-01 (PMID 42893817; literature)
- Widespread Loss of Heterozygosity and Endoreduplication in Odontogenic Myxoma: Expanding the Clinicopathologic Spectrum of An Enigmatic Odontogenic Neoplasm. — Am J Surg Pathol, 2026-09-16 (PMID 42745350; literature)
- Somatic-only SDHD variant with tumor-specific loss of heterozygosity in metastatic carotid body tumor: a case report with review of literature. — Endocr J, 2026-09-11 (PMID 42732958; literature)
- Postzygotic NRAS variants and subsequent copy-neutral loss of heterozygosity underlie speckled-pattern formation in nevus spilus-type congenital melanocytic nevus. — J Invest Dermatol, 2026-09-09 (PMID 42716210; literature)
- Copy-Number Alterations and Copy-Neutral Loss of Heterozygosity in Adult T-ALL: A Descriptive Study in Relation to Day +70 MRD. — Int J Mol Sci, 2026-10-21 (PMID 42942121; literature)