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

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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.

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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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Authors and Affiliations

  1. Institute of Cell and Molecular Pathology, Hannover Medical School, Hannover, Germany

    Dorothea Gadzicki & Brigitte Schlegelberger

  2. Medical Genetics Research Group and Regional Genetics Service, University of Manchester and Central Manchester Foundation Hospital NHS Trust, St. Mary’s Hospital, Manchester, UK

    D. Gareth Evans

  3. Genesis Prevention Centre, University Hospital of South Manchester & Wythenshawe Hospital NHS Foundation Trust, Manchester, UK

    D. Gareth Evans

  4. GenEd Coordinating Centre, University of Manchester, Manchester, UK

    Hilary Harris

  5. U912, INSERM, IRD, Institut Paoli-Calmettes, Aix-Marseille Université, Marseille, France

    Claire Julian-Reynier

  6. Women’s Health Research, Münster Medical School, Münster, Germany

    Irmgard Nippert

  7. Institute of Human Genetics, Hannover Medical School, Hannover, Germany

    Jörg Schmidtke

  8. Centre of Human and Clinical Genetics, Leiden University Medical Centre (LUMC), Leiden, The Netherlands

    Aad Tibben

  9. Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands

    Aad Tibben

  10. Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, The Netherlands

    Christi J. van Asperen

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  1. Dorothea Gadzicki
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Gadzicki, D., Evans, D.G., Harris, H. et al. Genetic testing for familial/hereditary breast cancer—comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genet 2, 53–69 (2011). https://doi.org/10.1007/s12687-011-0042-4

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