PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Childhood Medulloblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Gorlin syndrome is associated with germline mutations in components of the Sonic Hedgehog pathway, including Patched1 (<i>PTCH1)</i> and Suppressor of fused (<i>SUFU)</i><i>SUFU</i> mutation carriers appear to have an especially high risk of early-onset medulloblastoma. 28620006 2017
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE In several of these cases, activation of HH-GLI signaling is mediated by overproduction of HH ligands (e.g., prostate cancer), loss-of-function mutations in <i>PTCH1</i> or gain-of-function mutations in <i>SMO</i>, which occur in the majority of basal cell carcinoma (BCC), SHH-subtype medulloblastoma and rhabdomyosarcoma. 31244888 2019
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Heterogeneity of familial medulloblastoma and contribution of germline PTCH1 and SUFU mutations to sporadic medulloblastoma. 21188540 2011
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE It now appears that constitutive activation of Hedgehog signalling, by inactivating mutations in PTCH1 or activating mutations in the coreceptor SMOH, is required and possibly sufficient for basal cell carcinoma development and also contributes to the formation of a variety of other tumour types, including medulloblastoma and rhabdomyosarcoma. 11130178 2000
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE In addition, Trim32 knockout enhances the incidence of medulloblastoma (MB) formation in the Ptch1 mutant mice. 31527798 2020
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE The authors performed a retrospective analysis for allelic deletion of the adenomatous polyposis coli (APC) and PTCH gene loci using paraffin embedded medulloblastoma specimens from patients who were admitted to Children's National Medical Center in Washington, DC, between 1982 and 1997. 10375116 1999
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE In contrast, mice lacking one or two functional Ink4c alleles and one copy of Patched (Ptc1) encoding the Shh receptor rapidly developed MBs that retained wild-type p53. 16260494 2005
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma. 21368767 2011
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Whereas Gorlin's syndrome patients carry germ-line mutations in the patched (PTCH) gene, Turcot's syndrome patients with MBs carry germ-line mutations of the adenomatous polyposis coli (APC) gene. 11585731 2001
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease 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: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Patched1 heterozygous (Ptch1 <sup>+/-</sup>) mice, carrying a germ-line heterozygous inactivating mutation in the Ptch1 gene, the Shh receptor and negative regulator of the pathway, are uniquely susceptible to MB development after radiation damage in neonatal cerebellum. 29079783 2017
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Conversely, patients with PTCH1 germline mutations experience Shh overstimulation resulting in Gorlin (Nevoid Basal Cell Carcinoma) syndrome and an increased incidence of malignant transformation of CGNPs leading to medulloblastoma formation. 27444290 2016
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Eight genetic variants annotating three genes in the sonic hedgehog signaling pathway; CCND2, PTCH1, and GLI2, were found to be associated with the risk of medulloblastoma (P(combined) < 0.05). 26290144 2015
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Each SUFU-positive family included a single case of medulloblastoma, whereas only two (1.7%) of 115 individuals with Gorlin syndrome and a PTCH1 mutation developed medulloblastoma. 25403219 2014
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Gorlin syndrome is a rare multisystem inherited disorder which can predispose to basal cell carcinomas (BCCs), childhood medulloblastomas in addition to various developmental abnormalities; the majority of cases are due to mutations in the PTCH1 gene. 29356994 2018
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Nevoid basal cell carcinoma syndrome (NBCCS), caused by a PTCH1 mutation in the hedgehog signaling pathway, occasionally exhibits macrocephaly and medulloblastoma. 28328116 2017
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE We have identified the known c.1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. 19533801 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 GeneticVariation disease BEFREE Abnormal activation of components of the Hedgehog pathway--specifically, resulting from mutations in the Patched 1 gene--is associated with the development of basal cell carcinoma, as well as several other cancers, including medulloblastoma. 22177103 2011
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE By combining SB mutagenesis with Patched1 heterozygous mice (Ptch1(lacZ/+)), we observed an increased frequency of MB and decreased tumor-free survival compared with Ptch1(lacZ/+) controls. 24167280 2013
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Ptc1(+/-) mice develop spontaneous rhabdomyosarcoma (RMS) and medulloblastoma (MB), as well as BCC following radiation exposure. 15925443 2006
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease CTD_human Antitumor effects of a combined 5-aza-2'deoxycytidine and valproic acid treatment on rhabdomyosarcoma and medulloblastoma in Ptch mutant mice. 19155313 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Significantly, loss of MDM2 in Ptch1(+/-) mice, a model for Shh-mediated human medulloblastoma, impedes cerebellar tumorigenesis. 21437245 2011
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Using Ptch1(+/-) mice to study medulloblastoma progression, we found that Ptch1 loss of heterozygosity (LOH) is an early event that is associated with high levels of cell senescence in preneoplasia. 26997276 2016
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE These findings demonstrate an indispensable role for astrocytes in MB tumorigenesis and reveal a novel Ptch1-independent Shh pathway involved in MB progression.<i></i>. 28986380 2017
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		0.400 Biomarker disease BEFREE Simultaneous deletion of Zfx along with Ptch1 prevented BCC formation and delayed medulloblastoma development. 25164012 2014