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Journal of Community Genetics

, Volume 2, Issue 2, pp 53–69 | Cite as

Genetic testing for familial/hereditary breast cancer—comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany

  • Dorothea GadzickiEmail author
  • D. Gareth Evans
  • Hilary Harris
  • Claire Julian-Reynier
  • Irmgard Nippert
  • Jörg Schmidtke
  • Aad Tibben
  • Christi J. van Asperen
  • Brigitte Schlegelberger
Review

Abstract

In this review, the national guidelines and recommendations for genetic testing for familial/hereditary breast cancer from the UK, France, the Netherlands and Germany were evaluated as to the inclusion criteria for genetic testing. In all four countries, access to genetic testing relies basically on the family history of breast and ovarian cancer. Similarities are obvious for most selection criteria. All four guidelines recommend embedding genetic testing within a framework of genetic counselling, and all agree to perform genetic testing first in an affected person. However, there are differences regarding the thresholds based on certain familial constellations, detailed description of selection criteria, the degree of relatedness between affected individuals and the counsellee, the age of diagnosis, the individual history of early onset breast cancer, bilateral breast cancer, the tumour morphology or the access to intensified surveillance. These differences and open questions not covered by the guidelines, e.g. on how to deal with phenocopies, unclassified variants, genetic variants in newly identified breast cancer susceptibility genes or with family constellations not fitting the criteria, are discussed. New evidence is usually slowly integrated into the guidelines. An exchange process towards the harmonization of the guidelines will ensure high quality health care across Europe.

Keywords

Hereditary breast cancer BRCA1 and BRCA2 Genetic testing Inclusion criteria European comparison 

Notes

Acknowledgements

The authors gratefully acknowledge Gillian Teicke for her support in preparing the manuscript. This work was supported by the German Bundesministerium für Bildung und Forschung (BMBF, Federal Ministry of Education and Research), contract number 01GP0617. Prof. Evans is supported by the NIHR Biomedical Research Centre in Manchester.

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Dorothea Gadzicki
    • 1
    Email author
  • D. Gareth Evans
    • 2
    • 3
  • Hilary Harris
    • 4
  • Claire Julian-Reynier
    • 5
  • Irmgard Nippert
    • 6
  • Jörg Schmidtke
    • 7
  • Aad Tibben
    • 8
    • 9
  • Christi J. van Asperen
    • 10
  • Brigitte Schlegelberger
    • 1
  1. 1.Institute of Cell and Molecular PathologyHannover Medical SchoolHannoverGermany
  2. 2.Medical Genetics Research Group and Regional Genetics ServiceUniversity of Manchester and Central Manchester Foundation Hospital NHS Trust, St. Mary’s HospitalManchesterUK
  3. 3.Genesis Prevention CentreUniversity Hospital of South Manchester & Wythenshawe Hospital NHS Foundation TrustManchesterUK
  4. 4.GenEd Coordinating CentreUniversity of ManchesterManchesterUK
  5. 5.U912, INSERM, IRD, Institut Paoli-Calmettes, Aix-Marseille UniversitéMarseilleFrance
  6. 6.Women’s Health ResearchMünster Medical SchoolMünsterGermany
  7. 7.Institute of Human GeneticsHannover Medical SchoolHannoverGermany
  8. 8.Centre of Human and Clinical GeneticsLeiden University Medical Centre (LUMC)LeidenThe Netherlands
  9. 9.Department of Clinical GeneticsErasmus MCRotterdamThe Netherlands
  10. 10.Center for Human and Clinical Genetics, Department of Clinical GeneticsLeiden University Medical Center (LUMC)LeidenThe Netherlands

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