title: Molecular profiling of chronic lymphocytic leukaemia: genetics meets epigenetics to identify predisposing genes.
abstract: Molecular profiling may lead to a better understanding of a disease. This knowledge is especially important in malignancies, where multiple alterations are required during the progression from premalignant to malignant stages. Such information can be useful for the development of novel biomarkers that allow the prediction of a clinical course, response to treatment or early detection. Molecular data is also utilized to develop targeted therapies. Moreover, gene defects identified in profiling studies will help to understand the molecular pathways disrupted in the disease. This review provides an overview of molecular profiling approaches in chronic lymphocytic leukaemia (CLL). We will describe our current understanding of genetic alterations in CLL, the use of familial CLL for the identification of predisposing mutations, and the search for epigenetic alterations in CLL.
authors.affiliation: Department of Molecular Virology, Immunology, and Medical Genetics, Human Cancer Genetics Program, the Comprehensive Cancer Center at the Ohio State University, Columbus, OH, USA. c.plass@dkfz.de
authors.forename: Christoph
authors.initials: C
authors.lastname: Plass
authors.forename: John C
authors.initials: JC
authors.lastname: Byrd
authors.forename: Aparna
authors.initials: A
authors.lastname: Raval
authors.forename: Stephan M
authors.initials: SM
authors.lastname: Tanner
authors.forename: Albert
authors.initials: A
authors.lastname: de la Chapelle
mesh_terms: D051017:Apoptosis Regulatory Proteins / Q000235:genetics; D017871:Calcium-Calmodulin-Dependent Protein Kinases / Q000235:genetics; D064550:Death-Associated Protein Kinases; D044127:Epigenesis, Genetic; D020869:Gene Expression Profiling / Q000379:methods; D020868:Gene Silencing; D020022:Genetic Predisposition to Disease; D023281:Genomics; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*
chemical_list: D051017:Apoptosis Regulatory Proteins; D064550:Death-Associated Protein Kinases; D017871:Calcium-Calmodulin-Dependent Protein Kinases