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The Race to Locate BRCA1 (Breast Cancer 1)

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  1. Introduction
  2. Finding 1 gene among 20,000 others
  3. DNA markers: Prominent tools in genetic research
  4. Dr. King's twofold methods
  5. The work of Dr. King: A new outlook on patient treatment
  6. Conclusion
  7. References

In an interview, Dr. Mary-Claire King said, ?To me, the most interesting questions are those that have potentially a very practical outcome.?1 One of these questions was, What causes breast cancer? This question perplexed Dr. King since she was thirteen years old and lost her best friend to breast cancer. Over three decades later, in 1990, she discovered the breast cancer gene, brca1, and mapped its approximate location on the human genome.2 In the words of Dr. Mark Skolnick, who would later become a key rival in pinpointing the location of this exact gene: ?It galvanized research.?2 Dr. King's breakthrough took the scientific community by storm and inspired a subsequent flurry of scientists to try and locate brca1 as well as other disease-causing genes. Though it was Dr. Skolnick and the team at biopharmaceutical company Myriad Genetics Inc. that won the race of locating brca1, and Myriad Genetics that developed a diagnostic test (still in place today) called bracanalysis,3 which screens women for their susceptibility for developing breast cancer, Dr. King's work greatly paved the way for such an application. bracanalysis is especially significant because it marks an era of revolutionary preventative medicine, using new technologies to diagnose a person's chances of developing a disease in order to prevent its onset.

[...] Her group found that patients with breast tumors were missing a part of DNA on chromosome 17, which showed that brca1 was a tumor suppressor gene.3 From there, the challenge was to find the smallest region deleted in the cells since that was where the gene would be.3 At this point, the race was really on because groups all over the country were working on pinpointing brca1 and ?people clam[med] up when they [were] near the gene.?3 Collaboration leveled off and it was each group (in labs across the country and even abroad) working at its own pace, on its own region of chromosome 17. [...]

[...] King presented this finding, an approximation of the breast cancer gene which was named brca1 to a ?50-million-base pair region of chromosome that scientists (including Dr. Mark Skolnick) in the United States, England, and France began work on similar projects with the common goal of pinpointing the location of this gene.2 It's interesting that Dr. King's head start inspired other people to join in. She changed the way people thought because scientists started believing that such a gene could be located and mapped. [...]

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