Mechanisms of DNA Double-Strand Break Repair in Hematopoietic Homeostasis and Oncogenesis

  • Sarah A. Maas
  • Lura Brianna Caddle
  • Kevin D. Mills


Chromosomal instability is a hallmark of cancer associated with many, if not all, tumor types (reviewed in Aplan, 2006; Ferguson and Alt, 2001; Mills et al., 2003) (Fig. 4.1). Structural and numerical chromosomal abnormalities often play key roles in tumorigenesis and can occur as principle lesions in tumor precursor cells. These molecular alterations to the genome occur as a consequence of various exogenous or endogenous insults, producing chromosomal translocations, interstitial deletions, gene amplifications, and other aberrations. While extensive and nonrecurrent chromosomal lesions are associated with many different cancer types, specific characteristic lesions are often associated with given tumors, especially those of hematologic origin (Agarwal et al., 2006; Aplan, 2006; Ferguson and Alt, 2001).


Fanconi Anemia Class Switch Recombination Holliday Junction Breakpoint Cluster Region Fanconi Anemia Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

List of Abbreviations


Activation-induced cytidine deaminase


Acute lymphoblastic leukemia


Acute myeloid leukemia




Ataxia telangiectasia


Ataxia telangiectasia mutated


ATM and Rad3 related


B-cell acute lymphoblastic leukemia




Chinese hamster ovary


Chronic myelogenous leukemia


Class switch recombination


DNA-dependent protein kinase catalytic subunit


DNA double-strand break


Fanconi anemia


Gene conversion


Histone H2A variant X


Homologous recombination


Interstrand crosslinking




Immunoglobulin heavy chain


Ionizing radiation


Ligase IV


Myelodysplastic syndrome


Mouse embryonic fibroblast




Mre11-Rad50-Nbs1 complex


Nonhomologous end joining




Pre-T cell lymphoblastic leukemia


Recombination-activating gene


Replication protein A


Recombination signal sequences


Radiation-sensitive SCID


Sister chromatid exchange


Severe combined immunodeficiency


Synthesis-dependent strand annealing


Somatic hypermutation


Single-strand annealing


Single-stranded DNA


T-cell acute lymphoblastic leukemia or lymphoma


T-cell receptor


Topoisomerase III


XRCC4-like factor



We thank Dr. Sophie La Salle for critical review of this manuscript.


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Copyright information

© Springer Science+Business Media, LLC 2008

Authors and Affiliations

  • Sarah A. Maas
    • 1
  • Lura Brianna Caddle
  • Kevin D. Mills
  1. 1.The Jackson LaboratoryUSA

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