Pursuing a better path for women who inherit BRCA gene mutations

Research and Therapeutics

Joan Brugge, PhD, the Louise Foote Pfeiffer Professor of Cell Biology in the Blavatnik Institute at Harvard Medical School and co-director of the Ludwig Center at Harvard, has committed her professional career to breast and ovarian tumors. As part of her tireless work in this field, she began a collaborative endeavor in 2015 with scientists at Dana-Farber Cancer Institute (DFCI) called the Harvard Medicine BRCA Research Project. The project’s overarching objective has been to develop non-invasive medical options for women carrying mutations in the breast cancer 1 (BRCA1) or breast cancer 2 (BRCA2) genes.

Abstract rendering of a human body For these women, who are at a much higher risk of breast and ovarian cancer, one of the only preventive options is the surgical removal of the breasts and ovaries. That grim reality drives Brugge and her DFCI collaborators as they continue to try to determine strategies for halting the emergence of malignant tumors in BRCA-mutation carriers.

“Nearly eight years ago, a gift from the Goldberg family allowed us to jump-start this project from scratch with the enormous support from our collaborators at Dana-Farber, Brigham and Women’s Hospital, and Brigham and Women’s Faulkner Hospital, who provided tissues from women who carry mutations that increase their risk for breast cancer,” Brugge says.

We were able to purchase a state-of-the-art instrument that allows us to detect mutations in single cells from breast tissues of women who carry BRCA mutations.

Joan Brugge

Evan M. Goldberg, AB ’87, and his wife, Cynthia, learned 20 years ago that their family was impacted by BRCA mutations. While the BRCA1 and BRCA2 genes typically suppress tumors, some mutations in these genes prevent them from working properly, leading to a greater risk of certain cancers for people who inherit the mutations. The Harvard Medicine BRCA Research Project represented a new approach to looking at cancers—one that considered the genetic elements.

“The project investigators have been studying how cells turn into cancerous cells, and that deeper understanding of precursor cells could help with early treatment,” says Evan Goldberg. He and his wife recently re-upped their commitment to the project via the Goldberg Family Foundation, giving more than $1 million to Brugge and her DFCI collaborators. “The big money comes from the National Cancer Institute, which typically doesn’t fund earlier, higher-risk research,” Goldberg says. “We hope our support of this project helps the investigators make the case for larger funding.”

Brugge says that the new Goldberg gift has provided project researchers with the means to use new technologies to advance their understanding of the origins of breast cancer. “We were able to purchase a state-of-the-art instrument that allows us to detect mutations in single cells from breast tissues of women who carry BRCA mutations,” she says. “This makes it possible to detect the earliest genetic alterations that trigger the processes associated with cancer initiation. The goal is to identify these cells that are ‘on their way’ to forming tumors and devise a plan of action to detect pre-cancerous cells and develop therapeutic strategies to eliminate them to prevent cancer.”