Early detection in cases of familial breast cancer predisposition: What is appropriate and beneficial for the individual seeking advice?

Abstract

A "high-risk situation" is present when the lifetime risk of developing breast cancer is ≥ 30%. Currently, the most accurate risk assessment is provided by the Tyrer-Cuzick model. This takes into account several factors including the presence of certain risk genes, age, family history of breast and ovarian cancer, as well as mammographic breast density. In addition to BRCA1 and BRCA2 several other risk genes are known that can be tested using gene panels. However specific familial risk constellations are prerequisites for indicating a genetic test. Prior to conducting a genetic test comprehensive counselling should take place and the individual seeking advice should be given time to consider. The individual seeking advice faces a series of questions regarding the potential implications of a genetic test which not only affect herself but also her environment. In high-risk situations prophylactic mastectomy is an established surgical measure and intensified surveillance is a conservative approach. The latter includes semi-annual clinical breast examination with ultrasound starting from age 25 as well as an annual MRI mammography which exhibits the highest reliability compared to other imaging methods. Medical consultation aims to enable a participatory decision-making process for the individual seeking advice. This requires comprehensive information for the individual seeking advice and incorporation of her preferences. Evidence-based decision aids from professional societies can improve the decisions of the individual seeking advice.