Patient Reported Outcome Measures in BRCA 1 or 2 mutation carriers

BACKGROUND

Women who are carriers of the breast cancer susceptibility gene mutation (BRCA 1 or BRCA 2) are at high risk of developing breast cancer. Intensive breast cancer surveillance is offered to these women, including semi-annual clinical breast exam and annual, alternating, mammography and breast MRI, beginning at the age of 25 years. Bilateral prophylactic mastectomy (BPM) is another valid option to prevent breast cancer. Discussion of the risks and benefits of BPM requires an open dialogue between patient and provider and must include type of surgery, reconstruction options, related risks, and potential psychosocial and psychosexual effects. However, little is known about possible differences in patient reported health related quality of life outcomes (PROs) between BRCA 1 or BRCA 2 gene mutation carriers who either opt for breast surveillance or prophylactic surgery. Therefore, research on the possible differences in health related outcomes between BRCA gene mutation carriers choosing breast surveillance compared to bilateral prophylactic mastectomy (BPM) and immediate breast reconstruction, is warranted. With this knowledge, patients and providers alike will be better equipped to make the best individualized decision for high-risk women.

OBJECTIVE

To compare patient reported health-related quality of life outcomes (PROs) between BRCA 1 or 2 gene mutation carries who choose breast surveillance or bilateral prophylactic mastectomy with immediate reconstruction.

STUDY DESIGN

Fifty women with a BRCA 1 or 2 gene mutation who are at least one year after bilateral prophylactic mastectomy and 50 women with a BRCA 1 or 2 gene mutation who were scheduled for breast surveillance at least 1 year before, will be asked to complete 2 health-related quality of life questionnaires after consent is given.

POPULATION

Woman with a BRCA 1 or 2 gene mutation, above the age of 18 years, with adequate understanding of the Dutch language will be asked to participate. Patients will be grouped according to the strategy performed, i.e. bilateral prophylactic mastectomy of breast surveillance. Woman are recruited in the Netherlands.

ENDPOINTS

Providing a reference value for health-related quality of life utilities for BRCA 1 or 2 mutation carries related to the different strategies in breast cancer prevention.

To compare patient reported health-related quality of life outcomes (PROs) between BRCA 1 or 2 gene mutation carries who choose breast surveillance or bilateral prophylactic mastectomy with immediate reconstruction.

Crossectional, one time point

BRCA 1 or 2 gene mutation carries who choose breast surveillance or bilateral prophylactic mastectomy with immediate reconstruction.