Jenna A Fernandez1, Mrinal M Patnaik2. 1. Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA. 2. Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA. Patnaik.mrinal@mayo.edu.
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. Studying these syndromes may offer an opportunity to better understand the contribution of these genes in cancer development.
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. Studying these syndromes may offer an opportunity to better understand the contribution of these genes in cancer development.
Authors: Quan Zhao; Gerhard Rank; Yuen T Tan; Haitao Li; Robert L Moritz; Richard J Simpson; Loretta Cerruti; David J Curtis; Dinshaw J Patel; C David Allis; John M Cunningham; Stephen M Jane Journal: Nat Struct Mol Biol Date: 2009-02-22 Impact factor: 15.369
Authors: Bernhard Lehnertz; Yoshihide Ueda; Alwin A H A Derijck; Ulrich Braunschweig; Laura Perez-Burgos; Stefan Kubicek; Taiping Chen; En Li; Thomas Jenuwein; Antoine H F M Peters Journal: Curr Biol Date: 2003-07-15 Impact factor: 10.834