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

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 i...

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Detalles Bibliográficos
Autores principales: Katainen, Riku, Donner, Iikki, Räisänen, Maritta, Berta, Davide, Kuosmanen, Anna, Kaasinen, Eevi, Hietala, Marja, Aaltonen, Lauri A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9252859/
https://www.ncbi.nlm.nih.gov/pubmed/34281993
http://dx.doi.org/10.1136/jmedgenet-2021-107747