Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 5727
Gene Symbol: PTCH1
PTCH1
0.500 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
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: 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
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: 2264
Gene Symbol: FGFR4
FGFR4
0.470 GeneticVariation disease CLINVAR Targeting wild-type and mutationally activated FGFR4 in rhabdomyosarcoma with the inhibitor ponatinib (AP24534). 24124571 2013
Entrez Id: 2264
Gene Symbol: FGFR4
FGFR4
0.470 GeneticVariation disease BEFREE The V550E/L and N535D/K mutations of FGFR4 in RMS can lead to strong drug resistance to almost all of the type-I inhibitors. 31128178 2019
Entrez Id: 2264
Gene Symbol: FGFR4
FGFR4
0.470 GeneticVariation disease BEFREE This study tested FGFR4-activating mutations and overexpression for the ability to generate RMS in mice. 29487419 2018
Entrez Id: 2264
Gene Symbol: FGFR4
FGFR4
0.470 GeneticVariation disease CLINVAR Identification of FGFR4-activating mutations in human rhabdomyosarcomas that promote metastasis in xenotransplanted models. 19809159 2009
Entrez Id: 2264
Gene Symbol: FGFR4
FGFR4
0.470 GeneticVariation disease BEFREE Missense mutations of FGFR2 are found in endometrial uterine cancer and melanoma, and similar FGFR3 mutations in invasive bladder tumors, and FGFR4 mutations in rhabdomyosarcoma. 23696246 2014
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.450 GeneticVariation disease BEFREE Our results of common HRAS mutations and composite gene signature with RMS and neuronal/neuroblastic elements suggest a closer genetic link of MEM to RMS rather than to MPNST. 26872011 2016
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.450 GeneticVariation disease BEFREE To gain an understanding of the relationship between constitutional HRAS mutations and malignancy, HRAS was sequenced in an advanced biphasic rhabdomyosarcoma/fibrosarcoma from an individual with a 34G --> A mutation. 16372351 2006
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.450 GeneticVariation disease LHGDN Uniparental disomy at chromosome 11p15.5 followed by HRAS mutations in embryonal rhabdomyosarcoma: lessons from Costello syndrome. 17164262 2007
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.450 GeneticVariation disease BEFREE Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma. 29430633 2018
Entrez Id: 3265
Gene Symbol: HRAS
HRAS
0.450 GeneticVariation disease BEFREE The results demonstrate that tumor profiling in archival tissue samples is a useful tool for identifying diagnostic markers and potential therapeutic targets and suggests that these HRAS/ PIK3CA mutations play a critical role in the genesis of RMS. 24641407 2014
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
0.440 GeneticVariation disease BEFREE DICER1 mutations were detected in 4/6 (67%) cases with a rhabdomyosarcoma component and in 4/11 (36%) cases without rhabdomyosarcoma. 30266945 2019
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
0.440 GeneticVariation disease BEFREE Additional in trans DICER1 missense somatic mutations in the IIIb DICER1 domain were found both in the cystic nephroma and in the rhabdomyosarcoma, suggesting that neoplasms in this family might arise from the unusual two-hit mechanism for DICER-derived tumorigenesis in which after the presence of a truncated constitutive protein, a neomorphic DICER1 activity is somatically adquired. 28222777 2017
Entrez Id: 23405
Gene Symbol: DICER1
DICER1
0.440 GeneticVariation disease BEFREE Two cases of primary supratentorial intracranial rhabdomyosarcoma with DICER1 mutation which may belong to a "spindle cell sarcoma with rhabdomyosarcoma-like feature, DICER1 mutant". 31487013 2019
Entrez Id: 701
Gene Symbol: BUB1B
BUB1B
0.420 GeneticVariation disease BEFREE These data suggest that the genetic progression in rhabdomyosarcoma from MVA and non-MVA cases may be similar, but that somatic BUB1B mutations are unlikely to be common in sporadic childhood cancers known to be associated with MVA. 16182441 2006
Entrez Id: 4654
Gene Symbol: MYOD1
MYOD1
0.400 GeneticVariation disease BEFREE From the investigated 17 samples, seven (41%) showed homozygous mutation of MYOD1, indicating a critical role in this rare subtype of adult spindle cell RMS, while no mutations were found in any of the other genes involved in myogenic differentiation. 24272621 2014
Entrez Id: 3481
Gene Symbol: IGF2
IGF2
0.400 GeneticVariation disease BEFREE We have previously reported that the number of functional IGF-2 alleles is frequently increased in rhabdomyosarcoma (RMS), as a consequence of either relaxation of imprinting (LOI) or gene duplication. 9136994 1997
Entrez Id: 4654
Gene Symbol: MYOD1
MYOD1
0.400 GeneticVariation disease BEFREE We investigated 30 cases of MYOD1-mutant rhabdomyosarcoma (12 previously reported and 18 newly diagnosed) with an age range of 2-94 years, including 15 children. 30181563 2019
Entrez Id: 4654
Gene Symbol: MYOD1
MYOD1
0.400 GeneticVariation disease BEFREE Clinically, a striking correlation was found between MYOD1 mutation and the clinical outcomes available for 15 of 21 cases: 5 of 7 patients with spindle cell and sclerosing rhabdomyosarcomas, harboring MYOD1 mutation, were alive-with-disease and 2 of 8 patients with spindle cell and sclerosing rhabdomyosarcomas, with mutant MYOD1, were free-of-disease. 27562493 2016
Entrez Id: 4654
Gene Symbol: MYOD1
MYOD1
0.400 GeneticVariation disease BEFREE The expanding morphological and genetic spectrum of MYOD1-mutant spindle cell/sclerosing rhabdomyosarcomas: a clinicopathological and molecular comparison of mutated and non-mutated cases. 30604891 2019