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: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE - To detect histologic and molecular differences separating NIFTP from follicular adenomas (FAs) and invasive carcinomas, particularly papillary carcinomas with extensive follicular growth (PTC-EFGs) and invasive encapsulated PTC-FV (IE-PTC-FV). 29582677 2018
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE RNA was isolated from multinodular goiter (MNG; n=6), papillary carcinoma (PTC, n=14), follicular carcinoma (FC; n=5), and Hürthle cell carcinoma (HCC; n=7). 24559275 2014
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE BRAF and RAS mutations and RET/PTC gene rearrangements were found in 65.1%, 0%, and 1.6% of papillary carcinomas, respectively. 24591770 2014
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE In contrast, in thyroid carcinomas with single component histology, RET/PTC1 was detected in 11% of PCs and in none of the UCs, and RET/PTC3 was not found in any of the tumours studied. 20840674 2010
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE In addition, the activation of PLD by pervanadate triggered phosphorylation of tyrosine 705 residue on STAT-3, and its phosphorylation was dramatically higher in TPC-1 cells (from papillary carcinoma) that have an endogenous RET/PTC1 than in ARO cells (from anaplastic carcinoma) without alteration of total STAT-3 expression. 18498667 2008
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE In fact, it has been demonstrated that: a) RET/PTC is an early event in the process of thyroid carcinogenesis and has a critical role in the generation of the papillary carcinoma; b) RET/PTC activation is essentially restricted to the papillary histotype and to the Hürthle thyroid tumors; c) its incidence increases after exposure to radiations. 17891236 2007
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE Prevalence of RET/PTC rearrangements in thyroid papillary carcinomas: effects of the detection methods and genetic heterogeneity. 16772343 2006
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 AlteredExpression disease BEFREE Forty-seven percent (16 of 34) of papillary carcinomas and one oncocytic carcinoma expressed high RET/PTC1 mRNA levels. 16595592 2006
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE Chromosomal rearrangements involving the RET gene, known as RET/PTC, are prevalent in thyroid papillary carcinomas from patients with radiation history. 15671095 2005
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE RET rearrangements are restricted to a well-differentiated papillary carcinoma, suggesting that RET/PTC positive papillary carcinomas do not progress to undifferentiated carcinoma. 15368067 2005
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 AlteredExpression disease LHGDN Papillary carcinomas with high RET/PTC1 expression showed an association trend for large tumor size (P=0.063). 15502856 2004
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE We analyzed the prevalence of BRAF point mutations and RET/PTC rearrangements in 55 post-Chernobyl papillary carcinomas, compared with 82 sporadic papillary carcinomas. 15145515 2004
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE Employing in situ hybridization to detect INSL-3 transcripts and specific rabbit antisera against the INSL-3 proteins, both INSL-3 isoforms were detected in patients with Graves' disease (n=10), follicular carcinomas (FTC; n=12), papillary carcinomas (PTC; n=9) and undifferentiated anaplastic carcinomas (UTC; n=15). 12684664 2003
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE The aim of this study was to investigate the frequency and types of PTC genetic rearrangements in papillary carcinoma in a population of Hong Kong Chinese. 12457448 2002
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE RET/PTC1 tends to be more common in tumors with typical papillary growth and microcarcinomas and to have a more benign clinical course, whereas RET/PTC3 in some populations shows a strong correlation with the solid variant of papillary carcinoma and more aggressive tumor behavior. 12114746 2002
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE Assessment of RET/PTC oncogene activation and clonality in thyroid nodules with incomplete morphological evidence of papillary carcinoma: a search for the early precursors of papillary cancer. 12057919 2002
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE The identification of ret/PTC gene rearrangements refined the diagnosis of PC in 9 of 15 specimens (60%) that would otherwise have been considered indeterminate and in 2 of 6 that were considered insufficient for cytological diagnosis. 11344225 2001
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE The two rearrangements resulting from inversion of part of chromosome 10 (PTC1 and PTC3) accounted for the majority of RET rearrangements identified, with PTC1 being associated with papillary carcinomas of the classic and diffuse sclerosing variants and PTC3 with the solid/follicular variant. 10646883 2000
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE Papillary carcinomas show frequently a specific gene rearrangement which gives rise to the formation of several types of so-called RET/PTC chimeric genes. 10834397 2000
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE The frequency, if we consider exclusively the papillary carcinomas, is in both cases 12%; (b) show that the TRK oncogene plays a role in the development of a minority of radiation-associated papillary thyroid carcinomas but not in adenomas; and (c) confirm that RET/PTC rearrangements are the major genetic alteration associated with ionizing radiation-induced thyroid tumorigenesis. 10646882 2000
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE Taken together these results support the concept that RET/PTC activation plays a central role in the pathogenesis of thyroid papillary carcinomas in both Ukraine and Belarus after the Chernobyl accident. 10566678 1999
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 GeneticVariation disease BEFREE The present data do not support a major geographic difference in the prevalence of ret/PTC rearrangements in papillary carcinomas between Japan, the United States, and Italy. 9669285 1998
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE This study demonstrates that all thyroid carcinomas harboring activating RET rearrangements exhibit a well-differentiated phenotype, that of papillary carcinoma, and indicates that the subset of RET/PTC-positive papillary carcinomas do not progress to more aggressive, less differentiated tumor phenotypes. 9516913 1998
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 AlteredExpression disease BEFREE Here we report that ret/ptc1 oncogene was activated in two of the three papillary carcinomas of FAP kindred 1 and in the papillary carcinoma of FAP kindred 2. 9506763 1998
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.100 Biomarker disease BEFREE The newly identified oncogenes RET/PTC1 and RET/PTC3 provide useful and specific markers of the early stages of papillary carcinoma as they are highly specific for malignant cells. 9001272 1997