Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype.

ABSTRACT:

Background

Genes involved in epigenetic regulation are central for chromatin structure and gene expression. Specific mutations in these might promote carcinogenesis in several tissue types.

Methods

We used exome, whole-genome and Sanger sequencing to detect rare variants shared by seven affected individuals in a striking early-onset multi-cancer family. The only variant that segregated with malignancy resided in a histone demethylase KDM4C. Consequently, we went on to study the epigenetic landscape of the mutation carriers with ATAC, ChIP (chromatin immunoprecipitation) and RNA-sequencing from lymphoblastoid cell lines to identify possible pathogenic effects.

Results

A novel variant in KDM4C, encoding a H3K9me3 histone demethylase and transcription regulator, w

SUBMITTER: Katainen R 

PROVIDER: S-EPMC9252859 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature