In the OPTIONS study, we investigate the experiences of women with an increased risk of breast cancer due to a pathogenic variant (gene mutation) in one of the intermediate- or high-risk breast cancer genes: BRCA1, BRCA2, CHEK2, PALB2, or ATM.
The study aims to gain insight into both the short- and long-term impact of living with an increased breast cancer risk. Through interviews and questionnaires, we investigate the choices women made regarding risk management—such as surveillance, risk-reducing mastectomy, breast reconstruction, and lifestyle changes. We also examine their needs for information and support, as well as the psychosocial impact at different stages of life. So far, over 2800 women with a pathogenic variant completed the questionnaire.
A second goal of the study is to develop and evaluate decision-support tools for women at increased risk to develop breast cancer. To support informed decision-making, we are creating an information and decision aid to explain the pros and cons of different options to reduce breast cancer risk. For healthcare professionals, we are developing an e-learning module on risk management—including lifestyle factors—to strengthen shared decision-making with female carriers.
These tools are developed in line with the IPDAS criteria. To ensure the tools meet the needs of the end users, they are created through a co-creation process with female carriers and healthcare professionals. Currently, we are developing the tools which will be evaluated in clinical practice once completed.
