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

Jenna A. Fernandez, Mrinal M. Patnaik

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)82-93
Number of pages12
JournalCurrent Hematologic Malignancy Reports
Issue number4
StatePublished - Aug 2022


  • Cancer predisposition
  • DNA methylation
  • Epigenetics
  • Germline mutation
  • Hereditary disorders
  • Histone tail modifications

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research


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