Summary Information - EXT1
    Gene Database Entries for EXT1
    Other EXT1 Related Resources
    EXT1 and Hereditary Multiple Exostoses
       - EXT1 and Secondary Chondrosarcoma
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EXT1; Exostoses (multiple) 1

Location: 8q24.11-q24.13

Overview: EXT1 abnormalities are associated with hereditary multiple exostoses, an autosomal dominant bone disorder (also associated with EXT2 and EXT3 gene mutations). A small proportion of cases exhibit malignant transformation resulting in osteosarcoma or chondrosarcoma. Mutation of EXT1 has also been implicated in sporadic chondrosarcoma.

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OMIM
GeneCard (Weizmann Institute)
Human Gene Mutation Database (Cardiff, UK)
Swiss-Prot
Locus Link (search for EXT1)
UniGene
GenAtlas
GDB
Nomenclature (search for EXT1)

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Search Medline for related articles (PubMed)

Medline Search: cancer AND gene AND EXT1[TI] (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

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Wuyts W, et al. Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am J Hum Genet 1998; 62(2):346-54    Related articles (PubMed)

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Bovee JV, et al. Loss of heterozygosity and DNA ploidy point to a diverging genetic mechanism in the origin of peripheral and central chondrosarcoma. Genes Chromosomes Cancer 1999; 26(3):237-246    Related articles (PubMed)

Hecht JT, et al. Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. Am J Hum Genet 1997; 60(1):80-6    Related articles (PubMed)

Medline Search: EXT1 AND chondrosarcoma (PubMed)   Limit search to: [Last Year]  Limit search to: [Last 2 Years]   Limit search to: [Reviews]

Related Resources
Chondrosarcoma Genetics
Chondrosarcoma : Clinical and Epidemiological Information

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