Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus.

doi:10.1016/j.ajhg.2021.07.009

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Article

Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus.

American journal of human genetics - 2 Sept 2021

Colli Leandro M, Jessop Lea, Myers Timothy A, Camp Sabrina Y, Machiela Mitchell J, Choi Jiyeon, Cunha Renato, Onabajo Olusegun, Mills Grace C, Schmid Virginia, Brodie Seth A, Delattre Olivier, Mole David R, Purdue Mark P, Yu Kai, Brown Kevin M, Chanock Stephen J

Abstract excerpt

Our study investigated the underlying mechanism for the 14q24 renal cell carcinoma (RCC) susceptibility risk locus identified by a genome-wide association study (GWAS). The sentinel single-nucleotide polymorphism (SNP), rs4903064, at 14q24 confers an allele-specific effect on expression of the double PHD fingers 3 (DPF3) of the BAF SWI/SNF complex as assessed by massively parallel reporter assay, confirmatory...

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PMID: 34390653
DOI: 10.1016/j.ajhg.2021.07.009
PMCID: PMC8456159

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