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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Journal of Community Genetics
Erasmus MC: University Medical Center Rotterdam

Gadzicki, D., Evans, G., Harris, H., Julian-Reynier, C., Nippert, I., Schmidtke, J., … Schlegelberger, B. (2011). Genetic testing for familial/hereditary breast cancer - Comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. Journal of Community Genetics (Vol. 2, pp. 53–69). doi:10.1007/s12687-011-0042-4