Research


Breast Cancer Gene Discovery Changed Thinking on Genetics

Researcher Isolated Disease’s Hereditary Link

Dr. Mary-Claire King and colleagues surprised many experts by proving that a gene for inherited breast cancer could be isolated, and actually narrowed the search to chromosome 17. Kevin Davies and Michael White, authors of Breakthrough: The Race to Find the Breast Cancer Gene described the magnitude of the finding.

“To make an analogy,” they write, “if the total genome was represented by the distance between Bangor, Maine, and Miami, Florida, the researchers had narrowed the location of the breast cancer gene to the greater New York City area.”

King is a UW professor of medicine and genome sciences. The discovery of the gene, named BRCA1, may eventually lead to early detection and treatment of breast cancer.

Her colleague Dr. Maynard Olson, director of the UW Genome Center and a prime figure in the Human Genome Project, said that beyond the search for a cure for breast cancer, King has changed the way that people think about human genetics: “Before BRCA1, there was a widespread view that diseases like breast cancer were caused by multiple genes that interact with environmental factors. She told a different story: that in carefully selected families one could find a fairly simple genetic link for breast cancer. It provided a powerful path forward.”

King and her colleagues also are studying the genetics of deafness. They have identified the gene for inherited deafness in a large, extended family in Costa Rica. They are now working with Israeli and Palestinian geneticists to identify genes for inherited hearing loss in Middle Eastern families. King is also looking at immune system genes in people with systemic lupus erythematosus for clues to its genetic cause.

The spirit of an activist and human rights champion permeates her work. She has been politically active since her days as a graduate student at the University of California at Berkeley. She worked for Ralph Nader and taught science at the University of Chile during the Allende period. In the early 1980s, she used genetic tests to identify people or their remains to reunite Argentinean families with grandchildren whose parents had disappeared.

She is the recipient of many honors, including the Clowes Award for Basic Research from the American Association for Cancer Research and the Susan G. Komen Breast Cancer Foundation Award. She was elected to the Institute of Medicine and its Council, and is the Disney Foundation-American Cancer Society Professor for Breast Cancer Research. She is a member of the American Academy of Arts and Sciences. She has served on the President’s Cancer Panel National Commission on Breast Cancer, the Committee on the Use of DNA in Forensics of the National Academy of Sciences, and was director of the Molecular Genetics Identification Laboratory for the United Nations War Crimes Tribunal.

The Hollywood stars at the celebrity-studded Entertainment Industry Foundation have aligned to support Dr. Mary-Claire King’s ground breaking work. For the fifth consecutive year, King has garnered support from the Breast Cancer Research Foundation for her work with the New York Breast Cancer Study, aimed at identifying the genetic and environmental factors that may influence the risk of breast and ovarian cancer among women with inherited BRCA1 or BRCA2 mutations.












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