Functional characterization of the 12p12.1 renal cancer-susceptibility locus implicates BHLHE41.

doi:10.1038/ncomms12098

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Article

Functional characterization of the 12p12.1 renal cancer-susceptibility locus implicates BHLHE41.

Nature communications - 7 Jul 2016

Bigot Pierre, Colli Leandro M, Machiela Mitchell J, Jessop Lea, Myers Timothy A, Carrouget Julie, Wagner Sarah, Roberson David, Eymerit Caroline, Henrion Daniel, Chanock Stephen J

Abstract excerpt

Genome-wide association studies have identified multiple renal cell carcinoma (RCC) susceptibility loci. Here, we use regional imputation and bioinformatics analysis of the 12p12.1 locus to identify the single-nucleotide polymorphism (SNP) rs7132434 as a potential functional variant. Luciferase assays demonstrate allele-specific regulatory activity and, together with data from electromobility shift assays,...

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Identifiers

PMID: 27384883
DOI: 10.1038/ncomms12098
PMCID: PMC4941055

Genes

BHLHE41

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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