Chapter 2. The Genetic Background of Hereditary Tumor Diseases

  1. Prof. Dr. Heike Allgayer PhD2,
  2. Prof. Dr. Helga Rehder3 and
  3. Prof. Dr. Simone Fulda4
  1. Ortrud K. Steinlein

Published Online: 21 AUG 2009

DOI: 10.1002/9783527627523.ch2

Hereditary Tumors: From Genes to Clinical Consequences

Hereditary Tumors: From Genes to Clinical Consequences

How to Cite

Steinlein, O. K. (2008) The Genetic Background of Hereditary Tumor Diseases, in Hereditary Tumors: From Genes to Clinical Consequences (eds H. Allgayer, H. Rehder and S. Fulda), Wiley-VCH Verlag GmbH & Co. KGaA, Weinheim, Germany. doi: 10.1002/9783527627523.ch2

Editor Information

  1. 2

    University of Heidelberg and DKFZ (German Cancer Research Center) Heidelberg, Medical Faculty Mannheim, Chair of Experimental Surgery, Theodor-Kutzer-Ufer 1–3, 68167 Mannheim, Germany

  2. 3

    Medical University Vienna, Department of Medical Genetics, Währinger Strasse 10, 1090 Wien, Austria

  3. 4

    Ulm University Children's Hospital, Eythstrasse 24, 89075 Ulm, Germany

Author Information

  1. Ludwig Maximilians University of Munich, University Hospital, Institute of Human Genetics, Goethestrasse 29, 80336 Munich, Germany

Publication History

  1. Published Online: 21 AUG 2009
  2. Published Print: 17 DEC 2008

ISBN Information

Print ISBN: 9783527320288

Online ISBN: 9783527627523

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Keywords:

  • autosomal dominant;
  • autosomal recessive;
  • cell-type specificity;
  • reduced penetrance;
  • sporadic;
  • two-hit hypothesis

Summary

High penetrance mutations in several tumor predisposition genes have been identified that contribute to different hereditary cancer syndromes. Many of these mutations follow an autosomal dominant mode of inheritance, thus predisposition carriers are often found in subsequent generations. For several tumor predisposition genes, the basic mechanisms they play in cancer pathogenesis are well understood, however, several questions remain. Extensive research is still needed to uncover the molecular basis of phenomena such as reduced penetrance, cell-type specificity, and variability of associated clinical features.