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Current Hematologic Malignancy Reports
Erschienen in: Current Hematologic Malignancy Reports 4/2022

02.06.2022 | Germline Predisposition to Myeloid Neoplasms (R. MESA, SECTION EDITOR)

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

verfasst von: Jenna A. Fernandez, Mrinal M. Patnaik

Erschienen in: Current Hematologic Malignancy Reports | Ausgabe 4/2022

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Abstract

Purpose of Review

Somatic 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 Findings

The 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.

Summary

Studying these syndromes may offer an opportunity to better understand the contribution of these genes in cancer development.
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Metadaten
Titel
Germline Abnormalities in DNA Methylation and Histone Modification and Associated Cancer Risk
verfasst von
Jenna A. Fernandez
Mrinal M. Patnaik
Publikationsdatum
02.06.2022
Verlag
Springer US
Erschienen in
Current Hematologic Malignancy Reports / Ausgabe 4/2022
Print ISSN: 1558-8211
Elektronische ISSN: 1558-822X
DOI
https://doi.org/10.1007/s11899-022-00665-5

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