Joanne Kotsopoulos, PHD

Women who inherit a mutation in one of the two breast cancer susceptibility genes – BRCA1 or BRCA2 – have an increased risk of developing breast and ovarian cancer. Despite the fact that these genes were identified over 20 years ago, surgical prevention remains the most effective strategy for these high-risk women. Joanne Kotsopoulos, PhD and Tier 2 Canada Research Chair in Hereditary Breast and Ovarian Cancer Prevention, is investigating these hereditary cancers at the genetic level to deliver evidence-based, personalized strategies to improve women’s health and lower cancer incidence and mortality rates around the world.

BRCA mutation carriers are a unique population that faces extremely high risks of developing breast and ovarian cancer. As part of the Familial Breast Cancer Research Unit, Kotsopoulos conducts large-scale studies that offer powerful insights to understanding the unique risk factors and characteristics of hereditary cancers. Her research has provided important evidence showing how and why different influences such as hormones and reproductive factors can affect BRCA-related cancer development. Kotsopoulos’ findings have been the first to illustrate that both oral contraceptives and hormone replacement therapy increase risk of breast and ovarian cancers, while breastfeeding is protective against this risk. She also showed that oophorectomy, previously thought to reduce breast cancer risk by 50 per cent, actually has a limited effect on risk.

Many BRCA mutation carriers elect to undergo intensive screening instead of prophylatic surgery to manage their cancer risk, highlighting a need for evidence-based non-surgical options for diagnosis and prevention. Kotsopoulos is using biomarkers – such as sex hormones, mammographic density, circulating tumour DNA and gene expression – to better identify women at the highest risk of developing cancer to improve their chance of survival. She aims to further assess these biomarkers as potential targets for novel preventative drug therapies or as markers for early detection. These critical studies are providing women and healthcare providers around the world with evidence-based management options while contributing to our understanding of the pathogenesis of hereditary cancer.