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Article

Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11.

American journal of human genetics - 1 May 1995

Raskind W H, Conrad E U, Chansky H, Matsushita M

Abstract excerpt

Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant condition characterized by growth of multiple benign cartilage-capped tumors. EXT greatly increases the relative risk to develop chondrosarcoma, although most chondrosarcomas are sporadic. This observation suggests that, like the genes responsible for retinoblastoma and other dominantly inherited cancer susceptibility disorders, the genes...

Topics

Alleles
Chondrosarcoma
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 8
DNA, Satellite
Exostoses, Multiple Hereditary
Genes, p53
Genetic Markers
Heterozygote
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Sequence Deletion

Source

Open in PubMed Open full text

Identifiers

PMID: 7726169
PMCID: PMC1801462

Genes

EXT1
EXT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7726169-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Loss of heterozygosity in chondrosarcomas for markers linked to hereditary multiple exostoses loci on chromosomes 8 and 11.PMID 7726169Read ↗

Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies.Semantic proximity Read ↗

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.Semantic proximity Read ↗

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses.Semantic proximity Read ↗

Identification of novel mutations in the human EXT1 tumor suppressor gene.Semantic proximity Read ↗

Somatic loss of an EXT2 gene mutation during malignant progression in a patient with hereditary multiple osteochondromas.Semantic proximity Read ↗

A mouse model of chondrocyte-specific somatic mutation reveals a role for Ext1 loss of heterozygosity in multiple hereditary exostoses.Semantic proximity Read ↗

Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses.Semantic proximity Read ↗

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.Semantic proximity Read ↗

Hereditary Multiple Exostoses—A Review of the Molecular Background, Diagnostics, and Potential Therapeutic StrategiesSemantic proximity Read ↗

The Role of EXT1 in Nonhereditary Osteochondroma: Identification of Homozygous DeletionsSemantic proximity Read ↗

Three novel EXT1 and EXT2 gene mutations in Taiwanese patients with multiple exostoses.Semantic proximity Read ↗

Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromasSemantic proximity Read ↗

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