IGR_MITF_STUDY_BBRB

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

ORGANISM(S): Homo sapiens

SUBMITTER: DESSEN Philippe 

PROVIDER: S-ECPF-TABM-1198 | biostudies-other |

REPOSITORIES: biostudies-other