PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.500 Biomarker disease BEFREE The PTCH gene was specifically lost in 60% of BCC, and 50% of SCC tumors. 16484983 2006
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.500 Biomarker disease BEFREE In situ hybridization for GLI1 and PTCH1 was positive in basal cell carcinoma tumor cells, but was negligible in uninvolved or lesional psoriatic skin. 18754037 2009
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.500 Biomarker disease CTD_human 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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.500 Biomarker disease BEFREE In situ hybridization revealed high expression of PTCH2 transcripts in both familial and sporadic basal cell carcinomas in similarity to what has been observed for PTCH1, suggesting a negative regulation of PTCH2 by PTCH1. 10029063 1999
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.500 Biomarker disease BEFREE Not only do our data indicate the key role played by p53 and PTCH in the development of BCCs, these findings also suggest that UVB may significantly contribute to BCC tumorigenesis. 12007715 2002
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.500 Biomarker disease BEFREE PTCH1 is part of the hedgehog signalling pathway, and derangements within this pathway are now known to be important in the carcinogenesis of many different cancers including sporadic basal cell carcinoma. 20546211 2010
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.500 Biomarker disease HPO
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.500 Biomarker disease BEFREE The preventive effect of pTT on basal cell carcinoma (BCC) was evaluated in UV-irradiated Ptch-1(+/-) mice, a model of the human disease Gorlin syndrome. 18403589 2008
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.500 Biomarker disease BEFREE The human Patched (PTCH) gene is a classical tumour suppressor gene for basal cell carcinomas and medulloblastomas, the loss of which causes increased signalling through the Sonic Hedgehog (SHH) pathway. 17230190 2007
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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
CUI: C4721806
Disease: Carcinoma, Basal Cell
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