|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In this study, we report the analysis of the mutational status of the EXT2 gene in tumor samples derived from a patient affected by hereditary MO, documenting the somatic loss of the germline mutation in a giant chondrosarcoma and in a rapidly growing osteochondroma.
|
25744876 |
2015 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
EXT1 and EXT2, are tumor suppressor genes that encode glycosyltransferases involved in heparan sulfate elongation.
|
25230886 |
2014 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Being caused by mutations in the predicted tumor suppressor genes, EXT1 (chr 8q23-q24) and EXT2 (chr 11p11-p12) genes, HMEs are usually inherited with an autosomal dominant pattern, although "de novo" cases are not infrequent.
|
23262345 |
2013 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
EXT1 and EXT2 are both tumor suppressor genes encoding proteins that function as glycosyltransferases, catalyzing the biosynthesis of heparan sulfate.
|
22037484 |
2012 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The tumor suppressor genes EXT1 and EXT2 are involved in the formation of multiple osteochondromas, which can progress to become secondary peripheral chondrosarcomas.
|
19179614 |
2009 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Both EXT1 and EXT2 have been cloned and defined as a new family of potential tumor suppressor genes in previous work.
|
12490068 |
2002 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
We and others have previously suggested that a two-hit mutational model applies to the development of an exostosis where a germline mutation coupled with a somatic mutation results in the loss of EXT1 or EXT2 function and subsequent tumor formation.
|
12239711 |
2002 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate.
|
10639137 |
2000 |
|
Neoplasms
|
0.100 |
AlteredExpression
|
group |
BEFREE |
The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate.
|
9756849 |
1998 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Recently, two homologous genes, EXT1 and EXT2, with a putative tumor suppressor function have been described.
|
9450183 |
1998 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Both the EXT1 and EXT2 genes have been cloned recently and define a new family of potential tumor suppressor genes.
|
9326317 |
1997 |
|
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes.
|
8782816 |
1996 |
|
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In all, LOH was observed for markers linked to EXT1 or EXT2 in 44% of the 18 tumors, whereas heterozygosity was retained for markers on 19p linked to EXT3.
|
7726169 |
1995 |