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Genetic Predisposition to Cancer pp 372–382Cite as

Screening for mutations in cancer predisposition genes

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Abstract

This chapter is concerned with bringing the fruits of research into the inherited cancer syndromes to the diagnostic table. Once the gene for a particular syndrome has been mapped or cloned, the information can be used to provide presymptomatic testing for families affected with the disorder. If the predisposing gene has been localized by genetic linkage (see Chapter 2) but has not yet been cloned, an indirect test can often be provided by analysing DNA from the family with DNA polymorphisms to determine which allele (or form) of the marker is linked to it. Once the gene has been cloned (Chapter 3), a direct test can generally be done by screening family members for mutations in the gene.

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Authors
  1. Christopher G. Mathew
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Editors and Affiliations

  1. Cancer Genetics and Clinical Oncology, Institute of Cancer Research and Royal Marsden Hospital, Surrey, UK

    Rosalind A. Eeles (Senior Lecturer and Honorary Consultant) (Senior Lecturer and Honorary Consultant)

  2. CRC Human Cancer Genetics Research Group, University of Cambridge, UK

    Bruce A. J. Ponder (Director) (Director)

  3. CRC Genetic Epidemiology Unit, University of Cambridge, UK

    Douglas F. Easton (Director) (Director)

  4. Academic Unit of Radiotherapy and Oncology, Institute of Cancer Research and Royal Marsden Hospital, Surrey, UK

    Alan Horwich (Director of Clinical Research) (Director of Clinical Research)

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© 1996 Springer Science+Business Media Dordrecht

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Mathew, C.G. (1996). Screening for mutations in cancer predisposition genes. In: Eeles, R.A., Ponder, B.A.J., Easton, D.F., Horwich, A. (eds) Genetic Predisposition to Cancer. Springer, Boston, MA. https://doi.org/10.1007/978-1-4899-4501-3_26

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  • DOI: https://doi.org/10.1007/978-1-4899-4501-3_26

  • Publisher Name: Springer, Boston, MA

  • Print ISBN: 978-0-412-56580-9

  • Online ISBN: 978-1-4899-4501-3

  • eBook Packages: Springer Book Archive

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