Germline Abnormalities in DNA Methylation and Histone Modification and Associated Cancer Risk

AbstractPurpose of ReviewSomatic mutations in DNA methyltransferases and other DNA methylation associated genes have been found in a wide variety of cancers. Germline mutations in these genes have been associated with several rare hereditary disorders. Among the described germline/congenital disorders, neurological dysfunction and/or growth abnormalities appear to be a common phenotype. Here, we outline known germline abnormalities and examine the cancer risks associated with these mutations.Recent FindingsThe increased use and availability of sequencing techniques in the clinical setting has expanded the identification of germline abnormalities involving DNA methylation machinery. This has provided additional cases to study these rare hereditary disorders and their predisposition to cancer.SummaryStudying these syndromes may offer an opportunity to better understand the contribution of these genes in cancer development.

Source: Current Hematologic Malignancy Reports - July 13, 2022 Category: Hematology Source Type: research