Considerations in genetic counseling for inherited breast cancer predisposition

Of the 190000 women estimated to have been diagnosed with breast cancer in 2001, between 5% and 10% of them are likely to have developed their disease as the result of an inherited susceptibility. Although breast cancer is a component tumor of several familial cancer predisposition syndromes, mutations in BRCA1 and BRCA2 are the most commonly identified germline changes. Recognition of hereditary breast cancer is critical to allow the implementation of appropriate treatment, screening, and prevention strategies for the affected woman and her family members. Genetic testing may play an important role in refining risk assessment, identifying individuals at risk before cancer has developed, and relieving anxiety in family members who have not inherited the predisposition.