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: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE Immunostaining indicated that SHH expression was present in 60% of PJPs, 72% of adenomas, and 84% of carcinomas, whereas 68% of PJPs, 72% of adenomas, and 88% of carcinomas exhibited cytoplasmic expression of PTCH. 26997450 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 AlteredExpression group BEFREE The moderate overexpression of TGF-β1 and TβRII mRNA in PTC tissues (61.5% and 62.5%, respectively), counteracted their high overexpression in FTC tissues (100% and 100%, respectively), while EGFR overexpression was similar in both carcinomas. 24973511 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE EGFR-H was detected in 39.5% of carcinomas (n = 32) from patients with papillary (PTC, 46.2%, n = 18), follicular (29.6%, n = 8), and anaplastic (100.0%, n = 6) but not medullary (0.0%, n = 9) thyroid carcinoma. 23746767 2013
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE RET/PTC rearrangement is prevalent in follicular Hürthle cell carcinomas. 22803838 2012
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE To determine whether alterations in the PTCH1 gene are responsible for this pathway activation, we screened pancreatic carcinomas for mutations in PTCH. 22076568 2012
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE The molecular pathology of thyroid cancer is now better understood because of our ability to identify RET/PTC rearrangements and BRAF mutations in the aetiopathogenesis of the large majority of PTCs and the high prevalence of RAS mutations and PAX8/PPARgamma rearrangements in follicular patterned carcinomas (FTCs and follicular variant of PTCs). 19147628 2009
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Immunohistochemistry analysis showed that Skp2 was overexpressed significantly in thyroid carcinomas (26 out of 51) compared with goitres (0 out of 12, P<0.001) or adenomas (1 out of 10, P<0.05), and that high Skp2 expression was detected more often in anaplastic thyroid (ATC; 83%, n=12) than follicular thyroid (FTC; 40%, n=20) or papillary thyroid (PTC; 42%, n=19) carcinomas (P<0.05). 17639054 2007
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE Correlations were found in normal tissue specimens between the expression of TAp73 and DeltaNp73 transcripts and that of p53, p14ARF p16INK4a, but these correlations were lost in carcinomas (PTC or FTC). 16290057 2006
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Ret/PTC 1, the predominant rearrangement, was more prevalent in nonirradiated compared with irradiated carcinomas (66.7 vs. 27.0%; P = 0.04). 15126554 2004
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group 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: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE A strong correlation was observed between the solid-follicular subtype of papillary carcinoma and the RET/PTC3 isoform: 19 of the 24 RET/PTC-positive solid-follicular carcinomas harbored a RET/PTC3 rearrangement, whereas only 5 had a RET/PTC1 rearrangement. 10566678 1999
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 Biomarker group BEFREE Our results show that ret/PTC1-induced thyroid follicular cell carcinomas retain TSH responsiveness and maintain a benign biologic behavior despite histologic evidence of anaplasia. 9121114 1997
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.100 GeneticVariation group BEFREE No PTCH gene mutations were detected in 10 primary colon carcinomas and eighteen bladder carcinomas. 9192811 1997