|
Carcinoma, Basal Cell
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
We describe a patient with Gorlin syndrome who had three molecular aberrations resulting in biallelic disruption of the PTCH gene, leading to abnormal protein expression and development of basal cell carcinoma.
|
18476955 |
2008 |
|
Carcinoma, Basal Cell
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Both inherited and acquired mutations of patched 1 (PTCH1), a tumor-suppressor gene controlling the activity of Smoothened (SMO), are the primary cause of the constitutive activation of the Hedgehog (HH) pathway, leading to the emergence of BCCs in NBCCS.
|
21430703 |
2011 |
|
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 |
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 |
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 |
|
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 |
Clearance rates were similar for sBCCs and nBCCs (P = 0.354) and for lesions treated with IM 0.015% and 0.05% (P = 0.141).
|
31442334 |
2020 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Loss of heterozygosity of 9q alleles in both familial and sporadic basal cell carcinomas (BCCs) suggests that the NBCCS gene on 9q is acting as a tumour suppressor gene.
|
7533525 |
1994 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
CTD_human |
Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.
|
9581815 |
1998 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.
|
18272036 |
2008 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in hedgehog signaling pathway genes, especially PTC1 and SMO, are pivotal to the development of basal cell carcinomas.
|
11348463 |
2001 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Some tumors exhibiting hedgehog pathway activation such as basal cell cancer frequently harbor PATCHED-ONE (PTCH-1) or SMOOTHENED (SMO) gene mutations.
|
18543049 |
2008 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
By using several inducible Cre drivers to delete Ptch1 in different cell compartments in mice, we show here that multiple hair follicle stem cell populations readily develop BCC-like tumors.
|
25842978 |
2015 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
PTCH1 mutations in humans are found in basal cell carcinoma (BCC) and irradiated Ptc1(+/-) mice recapitulate this phenotype.
|
17631878 |
2007 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Somatic mutations in the components of Hh signaling (PTCH1 and SMO) have been shown to be a major cause of basal cell carcinoma, and dozens of Hh inhibitors have been developed.
|
31775795 |
2019 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Ptc1(+/-) mice develop spontaneous rhabdomyosarcoma (RMS) and medulloblastoma (MB), as well as BCC following radiation exposure.
|
15925443 |
2006 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in hedgehog pathway genes, primarily genes encoding patched homologue 1 (PTCH1) and smoothened homologue (SMO), occur in basal-cell carcinoma.
|
19726763 |
2009 |
|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Simultaneous deletion of Zfx along with Ptch1 prevented BCC formation and delayed medulloblastoma development.
|
25164012 |
2014 |
|
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 |