|
Medulloblastoma
|
0.900 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
HPO |
|
|
|
|
Medulloblastoma
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
We have examined 24 sporadic medulloblastomas for loss of heterozygosity (LOH) at loci flanking as well as within PTCH.
|
9041183 |
1997 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that PTCH represents a tumor suppressor gene involved in the development of the desmoplastic variant of MB.
|
9187099 |
1997 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The PTCH gene was found to contain somatic mutations also in sporadic basal cell carcinomas and medulloblastomas, tumors seen in NBCCS, consistent with PTCH acting as a tumor suppressor.
|
9354420 |
1997 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the human Patched gene ( PTCH ) have been identified in individuals with the nevoid basal cell carcinoma syndrome (NBCCS) as well as in sporadic basal cell carcinomas and medulloblastomas.
|
9931336 |
1999 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In contrast, only 1 of 33 sporadic medulloblastomas revealed PTCH gene deletion.
|
10375116 |
1999 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
One of the two mutations detected in this study had been missed by SSCP, suggesting that the true rate of PTCH mutations in sporadic medulloblastomas may be underestimated by SSCP screening.
|
10874314 |
2000 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The PTC gene is mutated in a subgroup of medulloblastomas, and may lead to increased proliferation in granule cells that normally express this receptor.
|
11106272 |
2000 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
It now appears that constitutive activation of Hedgehog signalling, by inactivating mutations in PTCH1 or activating mutations in the coreceptor SMOH, is required and possibly sufficient for basal cell carcinoma development and also contributes to the formation of a variety of other tumour types, including medulloblastoma and rhabdomyosarcoma.
|
11130178 |
2000 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Learning that Ptc1 is a medulloblastoma tumor suppressor led directly to the identification of the Ptc1 ligand, Sonic hedgehog, as a powerful mitogen for cerebellar granule cell precursors.
|
11283316 |
2001 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Whereas Gorlin's syndrome patients carry germ-line mutations in the patched (PTCH) gene, Turcot's syndrome patients with MBs carry germ-line mutations of the adenomatous polyposis coli (APC) gene.
|
11585731 |
2001 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Recent advances in the molecular genetics of medulloblastoma transformation (e.g., myc, PTCH ) are reviewed and discussed.
|
11772307 |
2001 |
|
Medulloblastoma
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In keeping with the role of PTCH as a tumor-suppressor gene, somatic mutations of this gene occur in sporadic basal-cell carcinomas and medulloblastomas.
|
12068298 |
2002 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
There is a strong association between anaplastic/large-cell tumours and MYC amplification, which has previously been linked with aggressive disease, but associations between abnormalities on chromosome 17 and anaplastic/large-cell MBs and between abnormalities in the shh/PTCH pathway and the desmoplastic variant are more controversial.
|
12175339 |
2002 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
MGD |
To our knowledge, irradiated newborn Ptc1(+/-) heterozygous mice constitute the first mouse model of IR-induced medulloblastoma tumorigenesis, providing a useful tool to elucidate the molecular basis of medulloblastoma development.
|
12386820 |
2002 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
MGD |
Hair cycle regulation of Hedgehog signal reception.
|
12648487 |
2003 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Most human MB cell lines tested (five of seven = 71.4%), two MB cell lines derived from spontaneously arising tumors in Patched-1(+/-) mice (two of two = 100%) and three MB primary cultures derived from surgical specimens, were susceptible to reovirus infection.
|
12810644 |
2003 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Medulloblastoma and RMS are also present in the murine model for Ptch1 deficiency.
|
12845631 |
2003 |
|
Medulloblastoma
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
In mice, Ptc1 haploinsufficiency and disruption of DNA repair (DNA ligase IV inactivation) or cell cycle regulation (Kip1, Ink4d, or Ink4c inactivation), in conjunction with p53 dysfunction, predispose to medulloblastoma.
|
14500378 |
2003 |
|
Medulloblastoma
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Constitutive activation of hedgehog signaling, often caused by PTCH1 inactivation and leading to inappropriate activation of GLI target genes, is crucial for the development of several human tumors including basal cell carcinoma of the skin and medulloblastoma.
|
15521068 |
2005 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Here we have used Ptc1(+/-); p53(-/-) mice which develop medulloblastoma to test the ability of cyclopamine to inhibit endogenous tumor growth in vivo after tumor initiation through intraperitoneal delivery, which avoids the brain damage associated with direct injection.
|
15652709 |
2005 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
BEFREE |
Ptc1(+/-) mice develop spontaneous rhabdomyosarcoma (RMS) and medulloblastoma (MB), as well as BCC following radiation exposure.
|
15925443 |
2006 |
|
Medulloblastoma
|
0.900 |
Biomarker
|
disease |
MGD |
In contrast, mice lacking one or two functional Ink4c alleles and one copy of Patched (Ptc1) encoding the Shh receptor rapidly developed MBs that retained wild-type p53.
|
16260494 |
2005 |