The BRCA1 protein is a caretaker of the cell. When DNA becomes damaged, BRCA1 helps restore the DNA to its proper form or initiates program cell death if it is beyond repair. This ensures that cells maintain their intended function. However, if BRCA1 itself becomes damaged, it can no longer perform its essential role. Its importance is highlighted by the finding that when this occurs, there is a greater risk for developing cancer. Discovery of BRCA1’s relevance to cancer in 1990 was groundbreaking because it established that there is a genetic component to cancer, not just viral as commonly thought at the time. More so, it has allowed for screening for mutations in BRCA1 and the related BRCA2 gene that can identify at-risk women so they can receive life-saving treatments. These mutations are thought to be responsible for approximately 3-8% of breast cancer cases in the U.S. and up to 25% of inherited breast cancer. What may be even more remarkable than this discovery is the woman who discovered it, Mary-Claire King. Dr. King identified the BRCA1-cancer connection at a time when the idea of genes playing a role in cancer was radical. As a self-described “stubborn person”, she persisted and continued to push the idea forward. At the same time, she took on a leadership role as a scientist, despite training at a time when independent female scientists were uncommon. And she did this all while being a mother. Recently, Dr. King revealed a story of how she almost didn’t get funded for the work that brought about the discovery of BRCA1. As a young professor, she was scheduled to fly to the National Institutes of Health to present on her proposed research. Based on this presentation, she would or would not be funded. However, earlier that week her husband left her. Upon taking her daughter home from daycare the next day, she found that her house had been broken into. Her mom flew out to watch her daughter while at the NIH, but refused to stay after finding out that her husband left her. Other than being awarded tenure that week, things weren’t going her way. However, she received support from her department chairmen, who offered her a drink after she broke down crying in his office, her former postdoc advisor, who offered to watch her daughter while she presented at the NIH, and the baseball player Joe DiMaggio, who stood with her daughter as she walked her mom to her plane. Thanks to them, she made it to the NIH, gave her presentation, and the rest is history. Her story highlights the many challenges that especially women (but also men) face when trying to balance their family and work. On this topic, she has said, “The coincidence of one’s child-bearing years with exactly the time one needs to build a career – that’s challenging. Science is also a very demanding child – you can’t just walk away from either.” That’s why she now tries to run a family-friendly lab. September is Women in Medicine Month, which celebrates physicians who have helped advance women in medicine. Dr. King may not be a physician, but she still serves as a strong female role model and advocate for women in medicine and medical research. Her story exemplifies the importance of the caretaker: just as BRCA1 maintains the health of our cells, she has helped maintain the health of her family, her students, and women across the world through her discovery of BRCA1’s link to breast cancer. It is also important to note that her story also emphasizes the role of a strong support system – that may or may not include a department chair, a former advisor, or a famous baseball player – for career advancement and work-life balance, just as BRCA1 is supported by the related caretaker protein BRCA2. These parallels between Dr. King’s story and BRCA1 serve as a reminder to take care of one another and know that you are never on your own, which can help you become a better physician. Source
