MYCN and MAX alterations in Wilms tumor and identification of novel N-MYC interaction partners as biomarker candidates.

ABSTRACT:

Background

Wilms tumor (WT) is the most common renal tumor in childhood. Among others, MYCN copy number gain and MYCN P44L and MAX R60Q mutations have been identified in WT. MYCN encodes a transcription factor that requires dimerization with MAX to activate transcription of numerous target genes. MYCN gain has been associated with adverse prognosis in different childhood tumors including WT. The MYCN P44L and MAX R60Q mutations, located in either the transactivating or basic helix-loop-helix domain, respectively, are predicted to be damaging by different pathogenicity prediction tools, but the functional consequences remain to be characterized.

Methods

We screened a large cohort of unselected WTs for MYCN and MAX alterations. Wild-type and mutant protein function were charac

SUBMITTER: Jimenez Martin O 

PROVIDER: S-EPMC8543820 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature