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JNCI Monographs 2008 2008(39):1; doi:10.1093/jncimonographs/lgn021
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Published by Oxford University Press 2008.

Overview of Mechanisms and Consequences of Chromosomal Translocation

Charles S. Rabkin, Siegfried Janz

Affiliations of authors: Viral Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD (CSR); Laboratory of Genetics, Center for Cancer Research, National Cancer Institute, Bethesda, MD (SJ)

Correspondence to: Charles S. Rabkin, MD, Viral Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892 (e-mail: rabkinc{at}mail.nih.gov).

This monograph reports proceedings of a National Cancer Institute workshop on chromosomal translocations in cancer held in October 2006 at the Airlie Conference Center, Warrenton, Virginia. Participants reviewed recent findings on the molecular mechanisms of chromosomal translocations (14). A particular focus was the MYC-IGH exchange, arguably the best elucidated translocation in terms of chromosomal and molecular structure, DNA repair and cellular stress-response signaling pathways, and modeling in transgenic mice (58). Epidemiologic understanding of oncogene-activating translocations primarily derives from unique features of BCL2, which, when expressed by juxtaposition to IGH enhancers, promotes survival and expansion of affected cells that are readily sampled in peripheral blood (9,10). By comparison, the fusion-gene translocations have well-described clinical consequences (11) but only recently have been modeled in mice (12,13), and their mechanisms of generation are still unclear. Translocations and other chromosomal aberrations are potentially valuable predictors of human cancer risk (1418). An historical perspective (19) and considerations of heritable translocations in mice (20) rounded out a truly comprehensive agenda.

The workshop brought together laboratory, clinical, and population scientists to cross-fertilize and catalyze research on this important disease process. On behalf of the participants, the co-organizers have had the privilege of assembling these proceedings to convey the workshop highlights for the interested scientific community.


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