Magnetic resonance surveillance reduces mortality in women at high risk of BRCA1 breast cancer as an alternative to preventive mastectomy

According to the results of an international study involving researchers from the Clinical Oncology group at the Sant Pau Research Institute, led by Dr. Teresa Ramon y Cajal, the follow-up with magnetic resonance imaging in women with mutations in the BRCA1 genes who have a high risk of developing breast cancer throughout their lives significantly reduces mortality without the need for preventive mastectomy.

The study, published today in the JAMA Oncology journal, analyzes data from women with pathogenic variants of the BRCA1 or BRCA2 genes and shows that those with BRCA1 sequence variations undergoing magnetic resonance imaging follow-up have a significantly lower breast cancer mortality rate. These results highlight the importance of early detection strategies, especially in women with a high genetic risk, and open the door to the need to evaluate the impact of this type of surveillance in women with variations in the BRCA2 gene.

The research includes data from patients from 59 different centers in 11 countries, among which Sant Pau stands out as the only center in the entire country. A total of 2.488 women with a mean entry age of 41,2 years were included. Of these, 1.756 (70,6%) underwent at least one magnetic resonance imaging test as part of the surveillance program, while 732 (29,4%) did not undergo any magnetic resonance imaging tests. After an average follow-up of 9,2 years, 344 women (13.8%) developed breast cancer, and 35 (1,4%) died from this disease.

“These results are important because these women have a very high risk of developing breast cancer. At Sant Pau, we have followed almost 200 patients for over a decade and have been able to verify that surveillance with magnetic resonance imaging significantly reduces their mortality because we detect tumors in very early stages when treatments are very effective,” explains Dr. Ramon y Cajal.

This expert adds that, “the alternative for these women at high genetic risk is to undergo a double radical mastectomy as a preventive measure. This is a very invasive technique, and it is important to remember that we are talking about individuals without any disease.”

Reference article:

Jan Lubinski, MD, PhD; Joanne Kotsopoulos, PhD; Pal Moller, MD; Tuya Pal, MD; Andrea Eisen, MD; Larissa Peck, MSc; Beth Y. Karlan, MD; Amber Aeilts, MSc; Charis Eng, MD, PhD; Louise Bordeleau, MD; William D. Foulkes, MBBS, PhD; Nadine Tung, MD; Fergus J. Couch, PhD; Robert Fruscio, MD; Teresa Ramon y Cajal,MD; Christian F. Singer, MD, MPH; Susan L. Neuhausen, PhD; Dana Zakalik, MD; Cezary Cybulski, MD, PhD; Jacek Gronwald, MD, PhD; Tomasz Huzarski, MD; Klaudia Stempa, MD, PhD; Jeffrey Dungan, MD; Carey Cullinane, MD; Olufunmilayo I. Olopade, MD; Kelly Metcalfe, PhD; Ping Sun, PhD; Steven A. Narod, MD; for the Hereditary Breast Cancer Clinical Study Group. MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations. JAMA Oncol. doi:10.1001/jamaoncol.2023.6944