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. [...]
[...] The discovery of brca1 wholly demonstrates this potential; it shows the important role genetics has come to play in preventative medicine. Following Dr. King's lead, more diseases have been pinpointed and more diagnostic tests developed, such as Melaris, which screens for hereditary melanoma and Colaris, for hereditary nonpolyposis colorectal cancer.3 Dr. Velculesu talked about the goal of doctors and scientists to use “personalized medicine,” therapy personalized to particular patients with particular diseases.4 The discovery of brca1 is a clear movement in this direction because its application bracanalysis accesses each woman for her particular risk of breast cancer, which helps doctors choose the type of treatment that will best address and reduce her personal risk. [...]
[...] These two things, the race to find brca1 and its aftermath, are at the heart of my paper and commentary. When Dr. Victor Velculescu came to lecture, he said that there are 20,000 genes in our 3-billion base pairs in our genetic code.4 The notion of locating a single gene in such a vast genome was pretty daunting and Dr. King met with criticism since at the time it was against great odds that scientists could find such a gene one mathematician John Edwards at Oxford University even wrote a mathematical proof to show the impossibility of such an attempt!5 Faced with such skepticism, it's easy to wonder what impelled Dr. [...]
[...] King's to gain appreciation for genetics because it's still a fairly young field (Watson and Crick only published DNA's double helix structure in 1953!), but on the other hand, that's exactly what makes genetics so exciting. It's right there on the cutting edge so if there was ever a time to get into genetics, it's now. For an undecided major, Dr. King's work is nothing short of inspiring and a career in genetics is definitely one I'll be considering. References Bailey, Martha J. American Women in Science. Santa Barbara, CA: ABC-CLIO, Inc Bass, Thomas A. Reinventing the Future. Reading, MA: Addison-Wesley Davies, Kevin, and Michael White. Breakthrough: the Race to Find the Breast Cancer [...]
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