Structural Variants as a Basis for Targeted Therapies in Hematological Malignancies.

ABSTRACT: Structural variants (SV) are changes in the genomic landscape that can alter gene expression levels and thus lead to disease development. The most common and best studied SVs in hematological malignancies are chromosomal translocations. Here, parts of two genes that are normally on different chromosomes come into close proximity due to a failure in DNA repair. As a consequence, fusion proteins which show a different function and/or cellular localization compared to the two original proteins are expressed, sometimes even at different levels. The identification of chromosomal translocations is often used to identify the specific disease a patient is suffering from. In addition, SVs such as deletions, duplications, inversions and single nucleotide polymorphisms (SNPs) can occur in hematopoiet

SUBMITTER: Schutte J 

PROVIDER: S-EPMC6722867 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature