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: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Mice heterozygous for patched homolog 1 mutations, like heterozygous patched 1 humans, have a higher incidence of Shh subgroup medulloblastoma (MB) and other tumors. 26935062 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Importantly, in vivo PTC-209 administration significantly reduced tumor growth in a HNSCC xenograft model probably by Bmi1 inhibition and impaired cell proliferation. 29200967 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Our results show that PTC presented different patterns of PN immunoreaction, stromal PN being significantly associated with advanced tumor stage and extrathyroidal extension. 29435461 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE Interestingly, expression of tumor suppressor PTCH1, which is another component of the Hh signaling pathway, was inhibited by miR-1249 through targeting its 3'-untranslated region. 28365245 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The multifocality rate of PTC was 35.1% and mPTC were shown to have larger primary tumor diameter, higher rate of lymph node metastasis and less number of accompanying non-cancerous lesions than single PTC in one or both gender groups. 28315434 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE The Hh signaling pathway appeared to be more active in PCa than in benign prostate tissue, as demonstrated by lower expression of the negative regulators PTCH1 and GLI3 in the tumor tissue compared to benign. 28877722 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE While various genetic alterations, such as PTCH1 mutation and loss of heterozygosity in tumor suppressor genes, have been reported, the molecular background of OKC is not well-understood. 29103753 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE These findings are consistent with a model where high levels of Hedgehog signaling caused by the loss of the tumor suppressor Ptch1 lead to oncogene-induced senescence and drive p53 mutations. 27229128 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The prevalence of CMV-PTC in FAP patients was higher than previously reported and this type of tumor was found preferentially in younger (under age 35) female patients with FAP in this cohort. 27623068 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE In mouse xenograft studies, oral administration of PTC-510 results in marked reduction of intratumor VEGF production and single agent control of tumor growth without any evident toxicity. 27992500 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Furthermore, inhibition of expression of miR-200c or miR-141 overcomes tumor suppressive effects of PTC-209 including induction of cellular senescence and downregulation of breast cancer stem cell phenotype. 27105531 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE FAK inhibition, with PF-562,271 treatment, modestly reduced tumor volumes, while FAK depletion, through shRNA knockdown, significantly reduced tumor volumes in vivo A role for FAK expression in tumor establishment was demonstrated in a model of PTC, where FAK knockdown tumors did not develop. 27259715 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Daily treatment with vismodegib efficiently downregulated Hh target genes Gli1, Hedgehog Interacting Protein (Hhip), and Ptch1, and caused a significant reduction of tumor volume and tumor growth delay. 26839306 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE Targeting of BMI-1 with PTC-209 shows potent anti-myeloma activity and impairs the tumour microenvironment. 26935956 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE This disorder is associated with mutations in tumor suppressor gene Patched 1 (PTCH1). 25727044 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Whole exome sequencing (WES) of tumor in one patient revealed loss of heterozygosity of PTCH1 and a mutation of GNAS gene in its non-coding 3' -untranslated region (UTR) with corresponding decreased protein expression. 25940061 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Formalin-fixed paraffin-embedded tumor tissues were collected from 338 M0 patients (>4.0 years at diagnosis) for pathology review and assessment of the WNT subgroup (MBWNT) and genomic copy-number defects (chromosome 17, MYC/MYCN, 9q22 (PTCH1) and DNA ploidy). 26420814 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE The expression pattern of PTCH1 showed an inverse correlation with the nuclear expression of GLI1 in the normal epithelium as well as in the tumors. 25330948 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Just as in patients with NBCCS, Ptch1+/-/SKH-1 also spontaneously develops BCCs and other neoplasms such as rhabdomyomas/rhabdomyosarcomas. 26413810 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Our data confirmed PTC genetic heterogeneity, revealing that gene expression correlates more with the mutation pattern than with tumor staging. 25803323 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE This is supported by the observation that human medulloblastomas with PTCH1 mutations displayed more similarities to PTCH1 wild-type tumors of the same age group than to PTCH1-mutated tumors of the other age group. 24871706 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE In general, our findings implicate Ptch receptor redundancy as a key issue in elucidating the cellular origin of Hh-induced tumors. 24492243 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The mutations are predicted to cause loss of function of PTCH1, consistent with its tumour suppressor function. 24659465 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Here we describe PTCH53, a p53 target gene that is homologous to the tumor suppressor gene PTCH1 and can function as a repressor of Hh pathway activation. 25296753 2014
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE Overexpression of upstream (PTCH1 and SMO) and downstream (GLI1, CCND1 and BCL2) genes in the SHH pathway leads to the constitutive activation of this pathway in KOT and AB and may suggest a mechanism for the development of these types of tumors. 24930892 2014