Chapter 11. Hereditary Breast Cancer

  1. Prof. Dr. Heike Allgayer PhD2,
  2. Prof. Dr. Helga Rehder3 and
  3. Prof. Dr. Simone Fulda4
  1. Rita Katharina Schmutzler

Published Online: 21 AUG 2009

DOI: 10.1002/9783527627523.ch11

Hereditary Tumors: From Genes to Clinical Consequences

Hereditary Tumors: From Genes to Clinical Consequences

How to Cite

Schmutzler, R. K. (2008) Hereditary Breast Cancer, 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.ch11

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. University Hospital Cologne, Center for Hereditary Breast and Ovarian Cancer, Department of Obstetrics and Gynecology, Kerpener Strasse 34, 50931 Cologne, 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:

  • BRCA genes;
  • prevention;
  • early derection;
  • chemotherapy;
  • counseling;
  • low penetrance;
  • risk calculation

Summary

Multidisciplinary counseling enables patients to make an informed decision on molecular genetic testing of the BRCA1 and BRCA2 breast cancer susceptibility genes. The offer of molecular genetic testing and preventive options depend on pedigree analysis and risk calculation. It is generally agreed that a mutation detection risk of ≥10% is a prerequisite for coverage by regular health care. In the GC-HBOC, the pseudonymous documentation of 5500 families (up to January 2008) in a centralized database has led to the compilation of empirically-based inclusion criteria with an overall mutation detection rate of 25%. Preventive options exist that reduce morbidity and mortality in BRCA mutation carriers and should be offered to these women in tertiary care centers. Chances and risks have to be discussed in detail in order to allow the counselee an individual and sustainable shared decision. The next challenges will be: (1) the introduction of new molecular targets into treatment and medical prevention of BRCA associated tumors; and (2) the identification of low penetrance genes and the understanding of their concerted action that may play a pivoral role in the development of the majority of breast cancers.