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

Gadzicki D, Evans DG, Harris H, Julian-Reynier C, Nippert I, Schmidtke J, Tibben A, Van Asperen CJ, Schlegelberger B

Zusammenfassung

In this review, the national guidelines andrecommendations for genetic testing for familial/hereditarybreast cancer from the UK, France, the Netherlands andGermany were evaluated as to the inclusion criteria forgenetic testing. In all four countries, access to genetictesting relies basically on the family history of breast andovarian cancer. Similarities are obvious for most selectioncriteria. All four guidelines recommend embedding genetictesting within a framework of genetic counselling, and allagree to perform genetic testing first in an affected person.However, there are differences regarding the thresholds based on certain familial constellations, detailed descriptionof selection criteria, the degree of relatedness betweenaffected individuals and the counsellee, the age of diagnosis,the individual history of early onset breast cancer, bilateralbreast cancer, the tumour morphology or the access tointensified surveillance. These differences and open questionsnot covered by the guidelines, e.g. on how to deal withphenocopies, unclassified variants, genetic variants in newlyidentified breast cancer susceptibility genes or with familyconstellations not fitting the criteria, are discussed. Newevidence is usually slowly integrated into the guidelines. An exchange process towards the harmonization of the guidelineswill ensure high quality health care across Europe.