{"database":"biostudies-other","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"submitter":["DESSEN Philippe"],"species":["Homo sapiens"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-ECPF-TABM-1198"],"project":["EurocanPlatform"],"abstract":["A recent study of the characteristics of coexisting melanoma and renal cell carcinoma RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia associated transcription factor (MITF) was proposed to act as a melanoma oncogene; it also stimulates the transcription of hypoxia inducible factor (HIF1A), whose pathway is targeted by kidney cancer susceptibility genes. By sequencing the MITF gene, we detected a germ line missense substitution (p.E318K) in 5 of 62 patients affected with melanoma and RCC. When compared with 1,659 controls, this MITF substitution occurred at a significantly higher frequency in melanoma + RCC patients (p = 1.3x10-4), melanoma -only patients (p = 7.8 x10-5), and RCC-only patients (p = 0.008). O"],"repository":["biostudies-other"],"experiment_type":["transcription profiling by array"],"data_source":["EurocanPlatform"],"pubmed_authors":["DESSEN Philippe"],"additional_accession":[]},"is_claimable":false,"name":"IGR_MITF_STUDY_BBRB","description":"A recent study of the characteristics of coexisting melanoma and renal cell carcinoma RCC in the same patients supports a genetic predisposition underlying the association between these two cancers. The microphthalmia associated transcription factor (MITF) was proposed to act as a melanoma oncogene; it also stimulates the transcription of hypoxia inducible factor (HIF1A), whose pathway is targeted by kidney cancer susceptibility genes. By sequencing the MITF gene, we detected a germ line missense substitution (p.E318K) in 5 of 62 patients affected with melanoma and RCC. When compared with 1,659 controls, this MITF substitution occurred at a significantly higher frequency in melanoma + RCC patients (p = 1.3x10-4), melanoma -only patients (p = 7.8 x10-5), and RCC-only patients (p = 0.008). O","dates":{"release":"2016-04-14T14:53:24Z","modification":"2016-04-14T14:53:24Z","creation":"2016-04-14T14:53:24Z"},"accession":"S-ECPF-TABM-1198","cross_references":{"ArrayExpress":["E-TABM-1198"],"EFO":["EFO_0000756","EFO_0000322","EFO_0002890"],"ArrayExpress files":["E-TABM-1198"]}}