UNIT 10.1 Overview of Genetic Diagnosis in Cancer

  1. Bruce Korf,
  2. Fady M. Mikhail

Published Online: 1 OCT 2007

DOI: 10.1002/0471142905.hg1001s55

Current Protocols in Human Genetics

Current Protocols in Human Genetics

How to Cite

Korf, B. and M. Mikhail, F. 2007. Overview of Genetic Diagnosis in Cancer. Current Protocols in Human Genetics. 55:10.1:10.1.1–10.1.8.

Author Information

  1. University of Alabama at Birmingham, Birmingham, Alabama

Publication History

  1. Published Online: 1 OCT 2007
  2. Published Print: OCT 2007


Both cytogenetic and molecular genetic studies can contribute to the management of patients with cancer. In some cases genetic markers are specific to particular tumor types and are useful in diagnosis. This can be helpful in distinguishing histologically similar tumors that may respond differently to treatment and can sometimes be of prognostic value. Genetic markers can also be tools for following the response of a tumor to therapy, providing a sensitive means of detection of relapse. This introductory unit considers some of the types of genetic changes that occur in association with malignancies and major approaches used in their detection. Curr. Protoc. Hum. Genet. 55:10.1.1-10.1.8. © 2007 by John Wiley & Sons, Inc.


  • cancer;
  • oncogene;
  • tumor suppressor gene;
  • diagnosis