Helene Hudson Memorial Lectureship CANO 2008

Abstract

One in nine women will develop breast cancer in her lifetime (Canadian Cancer Society, 2007). Hereditary breast cancer accounts for only five to 10 per cent of all breast cancers. However, women carrying a single high-penetrance gene mutation have a 40% to 80% chance of developing breast cancer (Fackenthal & Olopade, 2007). Most of these breast cancers occur in women under the age of 50. The BRCA 1 gene mutation was first reported in 1994, and the BRCA 2 gene mutation in 1995.

The BRCA 2 gene mutation is often carried in males, and accounts for approximately six per cent of male breast cancer. Women with this gene mutation have a lifetime risk of developing breast cancer of between 50% and 85%, a second breast cancer of between 30% and 50%, and ovarian cancer between 10% and 20%. Each parent with the BRCA 2 gene mutation has a 50% chance of passing this gene mutation to their children (National Cancer Institute, 2006).

The emotional impact of receiving cancer risk information such as this is difficult to predict. When presented with information about risk-reduction surgery, chemoprevention, risk avoidance and increased screening, how does one make decisions?

Walk with me, as I share how my family discovered we carry the Icelandic founder gene mutation, the steps we took together during the testing process, and the decision-making by the family members who tested positive. We’ll focus on my sister Rita—ordinary days, an extraordinary woman.