Surgical options in hereditary breast cancer

Abstract

Women who have inherited mutations in breast cancer susceptibility genes mutations such as BRCA1 and BRCA2 have substantially elevated risks of breast and ovarian cancer. With the emergence of next generation sequencing, more breast cancer susceptibility genes have been identified resulting in complexity in genetic counselling and decision making for management options more complex. Mutation carriers have various options, including extensive and regular surveillance, chemoprevention and risk-reducing surgery. Prophylactic surgery (bilateral mastectomy, bilateral salpingo-oophorectomy or a combination of both procedures) has proved to be the most effective risk-reducing strategy for breast cancer and ovarian cancer, but there are no randomised controlled trials able to demonstrate the potential benefits or harms of prophylactic surgery. Although it is not uncommon to perform mastectomy when a mutation carrier is encountered, breast conservation is not completely contraindicated. Based on the current knowledge, it is also reasonable to recommend prophylactic oophorectomy for BRCA1 or BRCA2 mutation carriers when childbearing is completed in order to reduce the risk of developing breast and ovarian cancer. In addition, women should be offered the options of intensive breast surveillance, chemoprevention apart from bilateral prophylactic mastectomy. The selection of the most appropriate surgical options with or without risk-reducing strategy however is not simple. The impact of risk-reducing strategies on cancer risk, survival, and overall quality of life are the key criteria considered for decision-making. Various other factors should be taken into consideration when evaluating individual mutation carriers’ individual situation, namely woman’s age, morbidity, type of mutation, and individual preferences and expectations. Strategies and existing guidelines will be reviewed and discussed.