[From gene to disease; from BRCA1 or BRCA2 to breast cancer]

Hereditary breast cancer is a heterogeneous syndrome, both phenotypically and genetically. It affects about 5% of all breast cancer patients. The presence of ovarian cancer or breast cancer in males defines important subtypes. BRCA1 and BRCA2 are involved in all hereditary breast cancer syndromes in varying degrees. Both genes confer strongly elevated breast and ovarian cancer risks in mutation carriers, but these risks may be subject to modifying effects by other factors (genetic and/or environmental) at the individual level. In the Netherlands, DNA testing is offered under the national health insurance programme and has led to the identification of over 500 families with either a BRCA1 or BRCA2 mutation. The results of the test are being used widely by Dutch women in the decision for or against prophylactic surgery.