Mary-Claire King, University of Washington

King's work led to the most successful cancer diagnostic ever 

Affiliation: University of Washington
Title: Professor of Genome Sciences and of Medicine

In 1990, an era before large-scale DNA sequencing, Mary-Claire King painstakingly proved that there can be a genetic basis for cancer. For years, she analyzed epidemiological data and tested numerous genetic biomarkers en route to the discovery of a section of chromosome 17 that was later found to contain the infamous gene BRCA1.

Identification of carriers with a mutated BRCA1 gene can prevent breast and ovarian cancer, and alter the course of treatment for those who already have the disease. According to the National Cancer Institute, 55% to 65% of women who inherit a BRCA1 mutation will develop breast cancer by the time they turn 70.

Now King is a strong advocate of testing for mutations in BRCA1 and the related gene BRCA2. Testing is now offered by multiple companies due to a 2013 Supreme Court decision against market leader and incumbent provider Myriad Genetics ($MYGN).

About half of the women who carry mutations in those gene have no family history of breast or ovarian cancer, according to King's latest research. But physicians currently only recommend testing for these variations in women who have a family history of these cancers, so King argued for universal screening starting at age 30 in a controversial September editorial in The Journal of the American Medical Association.

Other advocates worry that women who have these mutations would opt en masse for preventive surgery, like breast removal, without an accurate assessment of the risk.

After her research leading to the discovery of BRCA1, the scientist has focused on the genetics of schizophrenia and inherited deafness.

King was honored for her achievements in September with the Lasker-Koshland Special Achievement Award in Medical Science. Since 1942, 86 winners of the Lasker awards have also won a Nobel Prize, according to The New York Times.

In a release honoring King's award, Robert Waterston, chair of the University of Washington's Department of Genome Sciences, said, "The idea that breast cancer could be related to a specific gene was not widely accepted, yet Dr. King continued to pursue that path and she pushed for the implementation of genetic tests in the clinic, pushed with others to make that information free and available, and pushed against patents in the field--succeeding on all fronts."

For more:
Researchers develop 'electronic skin' for early breast cancer detection
Scientist who discovered BRCA breast cancer gene advocates for systematic screening
In a blow to Myriad, SCOTUS rules human genes as unpatentable

-- Varun Saxena (email | Twitter)

Mary-Claire King, University of Washington