Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Among the tumor suppressor genes, frequent LOH was noted in the p53 (66%), Rb1 (33%), EXT1 (33%), and APC (20%) genes.
|
9307185 |
1997 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Array-CGH analysis of tumor DNA revealed that all eight osteochondromas had a large deletion of 8q; five tumors had an additional small deletion of the other allele of 8q that contained the EXT1 gene.
|
17341731 |
2007 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Patterns of EXT gene mutation in hereditary multiple exostoses, in solitary and multiple osteochondromas, and in chondrosarcoma are analogous to those found in other tumour suppressor genes responsible for family cancer traits and associated malignancies.
|
10398153 |
1999 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In almost 90% of MO patients germline mutations in the tumour suppressor genes EXT1 or EXT2 are found.
|
18271966 |
2008 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The genetics of these tumors is intriguing ranging from single gene event (ie, EXT mutation in multiple osteochondromas) to heterogeneous rearrangements with no recurrent involved chromosomal regions such as in chondroblastoma.
|
19700940 |
2009 |
Neoplasms
|
0.100 |
GeneticVariation
|
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 |
GeneticVariation
|
group |
BEFREE |
Finally, additional CIN-tumor-associated DNA amplifications were identified for EXT1 (8q24.11) and MYC (8q24.12) as well as DNA deletions for MAP2K5 (15q23) and LAMA3 (18q11.2).
|
17143621 |
2007 |
Neoplasms
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The cells in the reduced PEI-stained areas are likely associated with loss-of-function mutations in the EXT genes, and they might contribute to tumour initiation by disrupting the gradients.
|
21506131 |
2011 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Recently, the EXT1 gene has been isolated and partially characterized and appears to encode a tumor suppressor gene.
|
9150727 |
1997 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
However, recent studies in sporadic and exostosis-derived chondrosarcomas suggest that the 8q24.1-encoded EXT1 gene may have tumour suppressor function.
|
7550340 |
1995 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Expression of glycosylation genes involved in heparan biosynthesis (EXT1 and HS3ST1) was increased in ER-negative tumors.
|
22025563 |
2011 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
However, the discovery that the EXT family of tumour suppressor genes are responsible for HME suggests that it is more appropriate to classify HME as a familial neoplastic trait.
|
10739291 |
2000 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The EXT genes are a group of putative tumor suppressor genes that previously have been shown to participate in the development of hereditary multiple exostoses (HME), HME-associated and isolated chondrosarcomas.
|
10750558 |
2000 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The development is thus mainly due to loss of function of the EXT genes, consistent with the hypothesis that the EXT genes have a tumor- suppressor function.
|
9463333 |
1998 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Screening a large collection of human cancer cell lines (n=79) and primary tumors (n=454) from different cell types, we found that EXT1 CpG island hypermethylation was common in leukemia, especially acute promyelocytic leukemia and acute lymphoblastic leukemia, and non-melanoma skin cancer.
|
15385438 |
2004 |
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 |
Biomarker
|
group |
BEFREE |
We have previously shown that Ext1 mutated mouse embryonic fibroblasts produce short sulfated HS chains which dramatically influence tumor cell behavior in a 3-dimensional (3D) heterospheroid system composed of tumor cells and fibroblasts.
|
29580921 |
2018 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
The majority of these mutations are mutations causing loss of function, which is consistent with the presumed tumor suppressor function of the EXT genes.
|
10679937 |
2000 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
These findings suggest that EXT genes may be tumor-suppressor genes and that the initiation of tumor development may follow a multistep model.
|
7726168 |
1995 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Thus at least two members of the EXT family of tumor suppressors encode glycosyltransferases involved in the chain elongation step of HS biosynthesis.
|
9756849 |
1998 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
Indirect evidence suggests that EXT proteins are involved in glycosaminoglycan synthesis, act as tumor suppressors and affect hedgehog signaling.
|
10545594 |
1999 |
Neoplasms
|
0.100 |
Biomarker
|
group |
BEFREE |
EXT1 is regarded as a classic tumor suppressor.
|
31465316 |
2019 |
Neoplasms
|
0.100 |
PosttranslationalModification
|
group |
BEFREE |
Since mutations in the EXT1 gene are responsible for ~65% of the MO families with known causal mutation, our aim was to isolate and characterize the EXT1 promoter region to elucidate the transcriptional regulation of this tumor suppressor gene.
|
22037484 |
2012 |
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 tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate.
|
9620772 |
1998 |