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Though her colleagues scoffed at the idea, Mary-Claire King believed that there could be a genetic cause for breast cancer. In 1974, she launched on a painstaking process that would take her two decades to complete. First, she studied the family histories of 1,579 women who were diagnosed with breast cancer, looking for other instances in their immediate families or in prior generations. In some 15 percent of those cases, she found that there were indeed other cases of the disease in the same family. King then collected blood from the families she had identified and started looking at chromosomes. A new technological development in the early 1980's made her work much easier. Deoxyribonucleic acid (DNA) could now be extracted from blood samples, making it possible to spot a marker in one person's DNA that was identical to a marker in the DNA of another family member with cancer. After examining more than 180 markers, King was sure that she had found her pattern. She now knew that the gene she had been seeking was located on chromosome 17. In October, 1990, at the annual meeting of the American Society of Human Genetics in Cincinnati, Ohio, King presented her findings. She named the first breast cancer gene to be discovered "BRCA1," which stood for "breast cancer," but privately she liked to think of them as a tribute to Berkeley, the university where she had pursued her research for so many years.

However, though she knew approximately where the gene was located, King had not yet isolated BRCA1. Her announcement impelled a number of other research teams into a frantic effort to find the gene. It was finally identified in 1994. Ultimately it was cloned, but not by King. However, by identifying BRCA1, King proved that breast cancer could be inherited; thus, King made it possible for individuals at risk to spot symptoms of the disease early in its development and for researchers to find out exactly how genetic breast cancers develop. King's discovery also encouraged geneticists to see whether other diseases that, like breast cancer, had previously been linked primarily to the environment could be inherited. Moreover, by discovering the location of BRCA1, King made an important contribution to an area of genetics that could result in revolutionary treatments for various diseases. When scientists know how genes work, gene therapy (the insertion of DNA into an individual's cells to treat a disease) can become a real possibility. Finally, King's pioneering research encouraged scientists, as well as the general public, to focus their attention on breast cancer and to take the necessary steps to defeat it.

By discovering BRCA1, the gene on chromosome 17 that is linked to breast cancer and also to ovarian cancer, she proved that some of these cancers are inherited. Her work stimulated research into the genetic basis of breast cancer, resulting in the isolation of BRCA1 and the identification of another breast cancer gene, BRCA2. King's discovery not only aroused interest in breast cancer research but also impelled geneticists to initiate studies of other diseases, in the hope that they might find similar familial links; moreover, King and her colleagues could now investigate the possibility that gene therapy, the insertion of DNA into an individual's cells to treat a disease, might be used in the treatment of cancer. King's third contribution to science and to society was her application of DNA technology in human rights causes. She first used DNA sequencing to locate persons "disappeared" during Argentina's "dirty war" in the 1970's and 1980's, and later she also utilized the methods she had developed in order to identify the remains of victims of the repressive regime. King's technique became the standard method of identifying human remains, whether for human rights organizations investigating genocide or for government agencies dealing with disasters. Thus, the work of this dedicated scientist has impacted the lives of countless human beings. . .

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