Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4683
Gene Symbol: NBN
NBN
0.610 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
Entrez Id: 4683
Gene Symbol: NBN
NBN
0.610 Biomarker disease BEFREE In addition, it suggests a role for the NBS1 gene and the nibrin dependent pathway in the pathogenesis of RMS, especially those arising perianally. 15474156 2004
Entrez Id: 4683
Gene Symbol: NBN
NBN
0.610 Biomarker disease HPO
Entrez Id: 4683
Gene Symbol: NBN
NBN
0.610 CausalMutation disease CGI
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 GeneticVariation disease BEFREE A subset of epithelioid and spindle cell rhabdomyosarcomas is associated with TFCP2 fusions and common ALK upregulation. 31383960 2020
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE These data demonstrate that ALK is a bona fide immunotherapeutic target and provide a rationale for clinical development of an ALK-ADC approach for neuroblastomas and other ALK-expressing childhood cancers such as rhabdomyosarcomas. 30867324 2019
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.500 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
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.500 GeneticVariation disease BEFREE We speculate that PTCH2 modulates tumorigenesis linked to the PTCH1 mutation and is likely associated with the congenital onset of the RMS observed in our patient. 29230040 2018
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE We identified novel ALK fusions in a neuroblastoma (BEND5-ALK) and an astrocytoma (PPP1CB-ALK), novel BRAF fusions in an astrocytoma (BCAS1-BRAF) and a ganglioglioma (TMEM106B-BRAF), and a novel PAX3-GLI2 fusion in a rhabdomyosarcoma. 28069802 2017
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 GeneticVariation disease BEFREE Over the last few years, studies have demonstrated the occurrence of autophagy in different Anaplastic Lymphoma Kinase (ALK)-associated cancers, notably ALK-positive anaplastic large cell lymphoma (ALCL), non-small cell lung carcinoma (NSCLC), Neuroblastoma (NB), and Rhabdomyosarcoma (RMS). 29186933 2017
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE In addition to neuroblastoma, the high-grade amplification of ALK has been described in a subset of rhabdomyosarcoma cases. 28756644 2017
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 AlteredExpression disease BEFREE Here, we report that LDK378 reduces cell viability and induces cell death in RMS cell lines at low micromolar IC50 concentrations irrespective of ALK expression levels or phosphorylation status. 29045271 2017
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE To determine the in vitro and in vivo effects and mechanism of action of the second-generation ALK inhibitor ceritinib on RMS cell growth. 29067644 2017
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE Overall, our data suggest a potential role of ALK in pediatric RMS. 27385213 2016
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE Anaplastic lymphoma kinase may also have an oncogenic role in rhabdomyosarcomas and peripheral neuroblastic tumors, and they may possibly be treated with ALK inhibitors. 26005112 2015
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE In vitro treatment with crizotinib inhibited ALK and MET proteins, as well as Insulin-like Growth Factor 1 Receptor (IGF1R), with a concomitant robust dephosphorylation of AKT and ERK, two downstream kinases involved in RMS cell proliferation and survival. 26445453 2015
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE Molecular analyses have identified RAS/NF1, hedgehog, IL-4R, and ALK pathway abnormalities as potential therapeutic targets in RMS. 24326270 2014
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE The ALK-positive group showed inferior overall survival (OS) compared with ALK-negative group (p=0.014) for both alveolar and embryonal RMS patients. 23922356 2014
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE Although it remains controversial whether ALK expression without gene rearrangement is therapeutically relevant, this comprehensive analysis may help future studies on the utility of ALK-targeted therapy for patients with rhabdomyosarcoma. 23307059 2013
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE We also identified possible application of an ALK inhibitor to RMS, as ALK amplification and frequent expression of ALK were detected in our RMS cohort. 23578105 2013
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 AlteredExpression disease BEFREE Quantitative assessment of ALK mRNA expression helps to improve risk stratification of RMS patients and identifies tumours with adverse biological characteristics and aggressive behaviour. 24149177 2013
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 CausalMutation disease CLINVAR Anaplastic lymphoma kinase aberrations in rhabdomyosarcoma: clinical and prognostic implications. 22184391 2012
Entrez Id: 238
Gene Symbol: ALK
ALK
0.500 Biomarker disease BEFREE Future research should aim at the oncogenic role of ALK and the potential effect of ALK inhibitors in RMS. 22184391 2012
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.500 Biomarker disease BEFREE Expression of GLI1 with or without PTCH was detected in substantial subsets of embryonal RMS (ERMS) and US tumors but only rarely in alveolar RMS tumors. 21618411 2011
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.500 GeneticVariation disease BEFREE Recent studies have shown that mutation of the PTCH1 gene involved in the Hedgehog pathway affects rhabdomyosarcoma development. 21674124 2011