Article
Novel germline variant in the histone demethylase and transcription regulator KDM4C induces a multi-cancer phenotype.
Journal of medical genetics - 1 Jul 2022
Katainen Riku, Donner Iikki, Räisänen Maritta, Berta Davide, Kuosmanen Anna, Kaasinen Eevi, Hietala Marja, Aaltonen Lauri A
Abstract excerpt
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...
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