|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
One work found higher rates of p53 and PTCH (both are tumor suppressor genes whose alterations are associated with BCC formation and frequency, but not biological behavior) abnormalities in post ionizing radiation BCCs.
|
23052377 |
2012 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the human patched gene, PTCH, are responsible for the nevoid basal cell carcinoma (NBCC) syndrome or Gorlin's syndrome, characterized by multiple skin cancers, internal cancers and severe developmental abnormalities.
|
10838143 |
2000 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Basal cell carcinoma (BCC) of the skin is the most common form of cancer, with the majority being caused by mutations in the Patched1 (Ptch1) gene, leading to activation of the Hedgehog (Hh) signaling pathway.
|
20858761 |
2010 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have analyzed 9 sporadic BCCs and 37 PNETs for mutation and expression of the PTCH gene.
|
9205058 |
1997 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The finding of mutations in the PTCH gene in both Gorlin's syndrome and sporadic basal cell carcinomas has significantly advanced our understanding of the molecular defects that lead to the formation of these tumours.
|
12423429 |
2002 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
An early event in BCC formation, loss of heterozygosity (LOH) at the Patched 1 (Ptch1) locus, can be used as a tool to address whether this tumour is monoclonal.
|
12410703 |
2002 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
LOH of PTCH1 gene is often found in a series of different tumors, for example basal cell carcinoma (BCC) and ovarian carcinoma (OC).
|
22201935 |
2012 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Also, several structural rearrangements of chromosome arm 9q were seen, which may be of particular interest against the background that a gene for familial BCC (Gorlin syndrome), the PTCH gene, maps to this region.
|
9595042 |
1998 |
|
Carcinoma, Basal Cell
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Constitutional PTCH mutations are causative of the nevoid basal cell carcinoma syndrome, and somatic PTCH mutations are found in the vast majority of basal cell carcinomas.
|
17214858 |
2007 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |