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

Germline Abnormalities in DNA Methylation and Histone Modification and Associated Cancer Risk Purpose 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Current Hematologic Malignancy Reports Springer Journals

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

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References (119)

Publisher
Springer Journals
Copyright
Copyright © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022
ISSN
1558-8211
eISSN
1558-822X
DOI
10.1007/s11899-022-00665-5
Publisher site
See Article on Publisher Site

Abstract

Purpose 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.

Journal

Current Hematologic Malignancy Reports – Springer Journals

Published: Aug 1, 2022

Keywords: DNA methylation; Histone tail modifications; Cancer predisposition; Germline mutation; Epigenetics; Hereditary disorders

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