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 Biomarker group BEFREE Incidence of bilateral tumors is high and increases with the number of tumor foci in multifocal PTC. 30851890 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE Alternative splicing mediated by mutant U1 snRNA inactivates tumour-suppressor genes (PTCH1) and activates oncogenes (GLI2 and CCND2), and represents a target for therapy. 31664194 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Mutant U1-snRNA-mediated alternative splicing inactivates tumour suppressor genes (PTCH1), and activates oncogenes (GLI2, CCND2), represents a novel target for therapy, and constitutes a highly recurrent and tissue-specific mutation of a non-protein coding gene in cancer. 31597162 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The oncoprotein Smoothened (SMO), a G-protein-coupled receptor (GPCR) of the Frizzled-class (class-F), transduces the Hedgehog signal from the tumour suppressor Patched-1 (PTCH1) to the glioma-associated-oncogene (GLI) transcription factors, which activates the Hedgehog signalling pathway<sup>1,2</sup>. 31168089 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE <b>Methods:</b> Here, we investigated the impact of PTC-209, a small-molecule Bmi-1 inhibitor, on human cancer cell viability alone and in combination with anticancer drugs, namely, cisplatin, oxaliplatin, 5-fluorouracil, camptothecin, and Frondoside-A and its impact on cellular migration and colony growth <i>in vitro</i> and on tumor growth <i>in ovo</i>. 31695609 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE We describe a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma (PTC-FLS) that contained the rare BRAF c.1799_1801delTGA (p.V600_K601delinsE) mutation, which has not previously been reported in this tumour, as well as the CTNNB1 c.133T>C (p.S45P) mutation. 31327063 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE PTCH1 expression was significantly decreased in OC tissue compared with normal ovarian tissue and was associated with tumor size, TNM stage, and pathological grade (p < 0.05). 30523702 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE TERT promoter mutations correlated with older age (P < 0.0001), larger tumor size (P = 0.0002), oxyntic and aggressive PTC variants (P = 0.01), higher tumor stages (P < 0.0001), distant metastases (<0.0001) and disease outcome (P < 0.0001). 31042674 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE In both patients, we performed genetic analysis on different BCCs, revealing the presence of a shared PTCH1 mutation in all tumours. 30520020 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE Of these subgroups, SHH remains one of the most studied tumour groups due to the ability to model medulloblastoma formation through targeted deletion of the Shh pathway inhibitor Patched1 (Ptch1). 30657775 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE In the majority of cases (17 cases, 68%) at least one mutation in oncogenes or tumor suppressor genes was found: the most frequent ones involved TP.53 (13 cases, 76% of mutated SAC) and PIK3CA (three cases, 18%).The rate of PTCH1 mutation was 30%. 31038235 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE BCNS is a dominantly inherited disorder that is characterized by developmental abnormalities and postnatal neoplasms, principally BCCs. 30858923 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE For all patients with "MBEN" histology, we recommend sequencing SUFU and PTCH1 in the tumor as well as in the germ-line for further clinical stratification and choice of the optimal treatment strategy upfront. 29569031 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE FNA = fine-needle aspiration; GEC = gene expression classifier; NIFTP = noninvasive follicular thyroid neoplasm with papillary-like nuclear features; PTC = papillary thyroid cancer; SFN = suspicious for follicular neoplasia. 30084677 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Our analysis showed that tumor multifocality rather than size is the significant factor determining prognosis; hence, total thyroidectomy is indicated for an optimal assessment of true focality in micro-PTC. 28550398 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Shh signaling mutations, like those that remove Patched1 (Ptch1) or activate Smoothened (Smo), cause tumors dependent on the presence of cilia. 29378965 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 GeneticVariation group BEFREE - Proposed noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTPs), formerly noninvasive encapsulated papillary carcinoma, follicular variant (PTC-FV), is an indolent tumor with follicular growth and frequent RAS mutations. 29582677 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE In an aggressive uterine carcinosarcoma xenograft model, single-agent PTC-028 significantly delayed tumor growth and increased tumor doubling time compared with the standard carboplatin/paclitaxel therapy. 30026381 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group 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: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Correction to: Application of Strict Criteria for Noninvasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features and Encapsulated Follicular Variant Papillary Thyroid Carcinoma: a Retrospective Study of 50 Tumors Previously Diagnosed as Follicular Variant PTC. 29923169 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Application of Strict Criteria for Noninvasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features and Encapsulated Follicular Variant Papillary Thyroid Carcinoma: a Retrospective Study of 50 Tumors Previously Diagnosed as Follicular Variant PTC. 29368294 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE And Chromatin Immunoprecipitation assay confirms that the derepressed tumor suppressor genes belong to BMI-1 targets and the enrichment levels of H2AK119ub1 at their promoters is decreased upon PTC-209 treatment. 29886801 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE The Hedgehog (Hh) receptor Patched1 (PTCH1) is a well-known tumor suppressor that in its active form represses Smoothened (SMO) activity, inhibits proliferation, and induces apoptosis. 29453315 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 Biomarker group BEFREE Genetic analyses revealed recurrent somatic inactivations of the tumor suppressor gene Ptch1 and a recapitulation of the sonic hedgehog subgroup of human medulloblastomas. 27815386 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.200 AlteredExpression group BEFREE We found that SHH was highly expressed in human tongue OSCC, whereas patched (PTCH1), glioma-associated oncogene 1 (GLI1) and GLI2 proteins were expressed in the microvascular cells in the tumor invasive front. 29187450 2017