|
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 |
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 |
Statistical analysis revealed no significant differences in mean H-scores calculated for sBCCs, nBCCs and iBCCs.
|
31323143 |
2020 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Approximately 5% of KCOTs are associated with nevoid basal cell carcinoma (Gorlin) syndrome and 90% of these show genomic inactivation of the PTCH1 gene encoding Patched 1.
|
31725470 |
2020 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
By contrast, none of the FEP cases harbored a PTCH1 mutation or indeed any mutation known to be causally linked to the development of BCC.
|
31693503 |
2019 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in Patched-1 (PTCH1), leading to ligand-independent pathway activation, are frequent in several cancer types, but most prominent in BCC.
|
30649745 |
2019 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
However, dysregulated hedgehog signaling in human cancers was first described in patients with basal cell carcinoma nevus syndrome and sporadic basal cell carcinoma, in which germline or somatic mutations in pathway components (e.g., smoothened [Smo] and patched-1) lead to constant activation.
|
31243642 |
2019 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Basal cell carcinoma (BCC) is the most common human cancer, characterized by aberrant activation of the hedgehog (HH) signaling pathway resulting from mutations in the patched 1 (PTCH1) or smoothened (SMO) genes.
|
31756206 |
2019 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Evaluation of Patched-1 Protein Expression Level in Low Risk and High Risk Basal Cell Carcinoma Subtypes.
|
31554387 |
2019 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Accordingly, metabolic alterations due to a single copy loss of Ptch1 in Ptch1<sup>+/-</sup>/ODC<sup>t</sup>/C57BL/6 heterozygous mice may provide insights about the cancer prone phenotype of BCCs in GS patients, including biomarkers/targets for early intervention.
|
31506465 |
2019 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The clinical spectrum differs between SUFU and PTCH1 mutation carriers, and BCC incidence is much lower in SUFU mutation carriers.
|
29186568 |
2018 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Although most BCCs are sporadic, rare individuals with basal cell nevus syndrome (BCNS) harbor germline defects in PTCH1 and develop up to hundreds of tumors that are histopathologically indistinguishable from sporadic BCCs.
|
29111235 |
2018 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
BEFREE |
Our results demonstrate how PTCH1 loss results in aberrant regulation of SMO-independent mechanisms important for BCC biology and highlights a novel nuclear mechanism of SMO-GLI1 signaling that is unresponsive to SMO inhibitors.<b>Significance:</b> This study describes novel noncanonical Hedgehog signaling, where SMO enters the nucleus to activate GLI1, a mode that is unaffected by SMO inhibitors, thus prompting re-evaluation of current BCC treatment as well as new potential therapies targeting nuclear SMO.<i></i>.
|
29463581 |
2018 |
|
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 |
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 |
Aberrant sonic hedgehog signalling, mostly due to PTCH1 mutations, has been shown to play a central role in the pathogenesis of basal cell carcinoma (BCC), as well as in basal cell naevus syndrome (BCNS).
|
26822128 |
2016 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Eighty-five percent of the BCCs harbored mutations in Hh pathway genes (PTCH1, 73% or SMO, 20% (P = 6.6 × 10(-8)) and SUFU, 8%) and in TP53 (61%).
|
26950094 |
2016 |
|
Carcinoma, Basal Cell
|
0.500 |
Biomarker
|
disease |
CTD_human |
Eighty-five percent of the BCCs harbored mutations in Hh pathway genes (PTCH1, 73% or SMO, 20% (P = 6.6 × 10(-8)) and SUFU, 8%) and in TP53 (61%).
|
26950094 |
2016 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Basal cell carcinomas (BCCs) and a subset of medulloblastomas are characterized by loss-of-function mutations in the tumor suppressor gene, PTCH1.
|
25306392 |
2015 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Considering the fact that activation of Wnt signalling via down-regulation of APC and SFRP5 due to promoter methylation is observed in BCC of the skin, Wnt signalling activation in oesophageal BSCC might be a secondary effect of the PTCH1-inactivating mutations.
|
25395299 |
2015 |