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Writer's pictureU of T Scientista

Uncovering BRCA1: The Breakthrough Gene Discovery That Transformed Cancer Genetics

By Jahnavi Dalmia, Research Team Member



Only a few discoveries in the world of genetics have influenced cancer research, like Dr. Mary-Claire King’s identification of the BRCA1 gene, which revolutionized our knowledge and handling of hereditary cancer. In the 1970s, she focused on studying genetic patterns in breast cancer families. It was revolutionary to suggest that cancer could be inherited while the methods used in genetic analysis were still rudimentary. Nevertheless, Dr. King was inclined to think that an individual gene may lead to an increased cancer risk.


For more than 10 years she investigated patterns in affected families, accumulating information and improving her analysis to reach a conclusive result. Her work in statistical modeling and epidemiological analysis paid off by the year 1990 when she discovered a particular region in chromosome 17 that was related to the risk of breast cancer. Although the results of a gene influencing tumor formation and progression were apparent, it took several more years before scientists could isolate the gene, dubbing it BRCA1 in 1994. This gene, if mutated, became associated with a significantly raised risk of breast and ovarian cancers which was the start of the age of genetic tests and preventative care.


The identification of BRCA1 served not only to confirm the hereditary nature of some cancers but also to prove the great worth of genetic research for enhancing people’s lives. Now, due to the new advances in genetics, BRCA tests can be done to make preventative choices like screenings or surgeries. Dr. King’s work has gone on to save millions of patients and is still the foundation for ongoing investigations of the genetic basis of cancer. The discovery of the BRCA1 gene, a groundbreaking moment in cancer genetics, changed our understanding of inherited breast and ovarian cancer. Dr. King’s work transformed cancer prevention and treatment, giving rise to the field of genetic counseling and personalized medicine. Today, her legacy lives on in ongoing research on BRCA1/2 and other cancer susceptibility genes, helping millions worldwide understand and manage their cancer risks.


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