|
Carcinoma, Basal Cell
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
These results indicate that both HIP and PTC gene expression are specifically involved in the development of BCCs, and that the production of HIP is linked with the expression of the PTC gene but not the SHH gene.
|
11841368 |
2002 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In patients suspected of having BCNS or patients with multiple basal cell carcinomas (BCCs) with a special distribution on the body and no mutation detected in blood, it is worthwhile to search for a shared PTCH1 mutation in their BCCs as this can detect postzygotic mosaicism.
|
30520020 |
2019 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human homologue of Drosophila Patched1 (PTCH1) have been found in several common tumours including basal cell carcinoma, medulloblastoma, and rhabdomyosarcoma (RMS).
|
12845631 |
2003 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Patched (Ptch) receptors are critical negative regulators of Hedgehog signaling, where Ptch1 loss causes basal cell carcinoma and Ptch1;Ptch2 loss disrupts skin and hair follicle development.Adolphe et al. use single molecule fluorescent in situ hybridization to show quantitatively that Ptch receptors create a Hedgehog signaling gradient that may specify hair follicle development.
|
28010757 |
2017 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
PTCH was recently proposed as a candidate gene for NBCCS due to its frequent mutation in basal cell carcinomas, the cancer most often associated with this syndrome.
|
9041183 |
1997 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The simultaneous presence of UV-specific p53 and PTCH mutations in the same BCC sample has not previously been reported.
|
11174390 |
2001 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Oral celecoxib treatment inhibited BCC carcinogenesis in PTCH1(+/-) mice and had a significant anti-BCC effect in humans with less severe disease.
|
20051370 |
2010 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus far only the point mutations in the P53 gene from squamous cell carcinomas and BCCs, and in PTCH gene from BCC of xeroderma pigmentosum (XP) patients appear to be unambiguously attributable to solar UV radiation.
|
11684448 |
2001 |
|
Carcinoma, Basal Cell
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Basal cell carcinoma (BCC), the most common form of human cancer, is understood to be associated with activation of the sonic hedgehog pathway, through loss-of-function mutations of tumor suppressor PTCH1 or gain-of-function mutations of smoothened.
|
14647422 |
2004 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss of heterozygosity (LOH) for Patched 1 gene (PTCH) was demonstrated within two of the trichoepitheloma-like tumors and one tumor diagnosed as basal cell carcinoma, and the patient was show to have a PTCH gene deletion.
|
16207184 |
2005 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
None of the genes rearranged in the BCC-specific t(9;16)(q22;p13) translocation have been identified, but we hypothesize that the translocation represents the cytogenetic corollary of a tumorigenic recombination of PTCH with an as yet unknown gene in 16p13.
|
9012465 |
1997 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
We also tested the in vivo effects of topical CUR61414 on murine BCCs developed in Ptch1 (+/-) K14-CreER2 p53 fl/fl mice.
|
21558397 |
2011 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies revealed mutations of the following genes: CTNNB1, KIT, CDKN2A, TP53, SMAD4, ERBB4, and PTCH1, with some differences between the matrical and BCC components.
|
28368926 |
2017 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germline PTCH1 mutations are causative of Gorlin syndrome (naevoid basal cell carcinoma), but detection rates > 70% have rarely been reported.
|
25403219 |
2014 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results indicate that Dsg2 enhances canonical hedgehog signaling downstream of Ptc1 to promote BCC development through the activation of phosphorylated Stat3 and regulation of Gli1 expression.
|
30291846 |
2019 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Furthermore, by integrating network interaction construction, we found 37 important dysregulated genes (ING3, VEGFA, TP63, MMP11, NRP1, HIF1A, APC, PTCH1, etc.) that are significantly associated with BCC, as well as a few novel potential miRNAs (miR-203, miR-29b, miR-141, miR-7b, miR-9, miR-200a, miR-7c and miR-132) and TFs (MYB, MYC, STAT3, ARNT, PAX5, CUX1, E2F1 and CEBPA).
|
31641848 |
2020 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human tumor suppressor gene, Patched-1, are associated with nevoid basal cell carcinoma syndrome characterized by developmental abnormalities and tumorigenesis, such as basal cell carcinoma and medulloblastoma.
|
16934747 |
2006 |
|
Carcinoma, Basal Cell
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
Our data suggest that (i) HRM on DNA extracted from fresh tissue is the most sensitive method to detect methylation and (ii) methylation of the PTCH promoter may only play a minor role in BCC carcinogenesis.
|
20849535 |
2010 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Simultaneous deletion of Zfx along with Ptch1 prevented BCC formation and delayed medulloblastoma development.
|
25164012 |
2014 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
It is important to note that emerging therapies for treatment of BCCs in patients with a PTCH1 mutation may not be effective in those with a SUFU mutation.
|
29356994 |
2018 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
In summary, familial BFH can be distinguished from BCC based on clinical, histologic, and molecular features and is associated with deregulation of the PTCH pathway.
|
12652194 |
2003 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These pathways include (a) mutated PTCH (in the mitogenic Sonic Hedgehog pathway) and mutated p53 tumor-suppressor gene in basal cell carcinomas, (b) an activated mitogenic ras pathway and mutated p53 in squamous cell carcinomas, and (c) an activated ras pathway, inactive p16, and p53 tumor suppressors in melanomas.
|
15701081 |
2005 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Here, we present a father and daughter with a high propensity for the development of basal cell carcinoma who were heterozygous for a non-coding germline mutation in the 5' untranslated region (UTR) of PTCH-1 (insertion of a surplus CGG triplet at the site of a seven times CGG repeat).
|
24131384 |
2013 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
RNF139/TRC8 is a potential tumor suppressor gene with similarity to PTCH, a tumor suppressor implicated in basal cell carcinomas and glioblastomas.
|
19642973 |
2009 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study of post-transplant BCC provides the first indication that azathioprine exposure may be associated with PTCH mutations, particularly in tumours from non-sun-exposed skin.
|
18854826 |
2008 |