Quality and Quantity: How to Organize a Countrywide Genetic Counseling and Testing

摘要

About 30% of all women with breast or ovarian cancer exhibit a family history of the disease. So far, the genetic cause could be deciphered in about 30% of these cases. The results demonstrate a high genetic heterogeneity, with high-risk and moderate-risk genes and low-risk variants contributing alone or in concert to the development of cancer. Furthermore, it has been shown that the genotype significantly determines the phenotype and that knowledge of the phenotype is as important as the genotype to offer adequate and risk-adapted prevention to persons at risk. For newly identified risk genes, however, the phenotype is not sufficiently characterized at first, and thus prevention measures are not sufficiently evaluated.