4.3 Article

Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancer

Journal

DNA REPAIR
Volume 38, Issue -, Pages 127-134

Publisher

ELSEVIER SCIENCE BV
DOI: 10.1016/j.dnarep.2015.11.025

Keywords

Lynch syndrome; Mismatch repair; Colorectal cancer; Personalized medicine; Microsatellite instability; Chemotherapy

Funding

  1. National Institutes of Health [CA181959]
  2. State of Connecticut Grant [13SCB-UCHC-06]

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We have currently entered a genomic era of cancer research which may soon lead to a genomic era of cancer treatment. Patient DNA sequencing information may lead to a personalized approach to managing an individual's cancer as well as future cancer risk The success of this approach, however, begins not necessarily in the clinician's office, but rather at the laboratory bench of the basic scientist. The basic scientist plays a critical role since the DNA sequencing information is of limited use unless one knows the function of the gene that is altered and the manner by which a sequence alteration affects that function. The role of basic science research in aiding the clinical management of a disease is perhaps best exemplified by considering the case of Lynch syndrome, a hereditary disease that predisposes patients to colorectal and other cancers. This review will examine how the diagnosis, treatment and even prevention of Lynch syndrome-associated cancers has benefitted from extensive basic science research on the DNA mismatch repair genes whose alteration underlies this condition. (C) 2015 Elsevier B.V. All rights reserved.

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