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Mary-Claire King, PhD

University of Washington
Seattle, Washington

Titles and Affiliations

American Cancer Society Professor
Departments of Medicine and Genome Sciences

Research area

Characterizing the genetic susceptibility to breast cancer in high-risk groups and improving screening and risk stratification strategies.


The discoveries of BRCA1 and BRCA2 revolutionized breast cancer prevention and treatment. People of Ashkenazi Jewish descent are more likely to carry these mutations than the rest of the population. For many severely affected families, however, no cancer-causing mutations have been found using even the most state-of-the-art technologies. Dr. King is developing a completely new genomic technology that reveals classes of mutations in participants of the New York Breast Cancer Study (NYBCS) that were not detectable by any previous approach. Her efforts may lead to improvements in screening guidelines for families severely affected by inherited risk, so that all who are at risk of breast cancer can be identified before disease develops.

Progress Thus Far

The goal of the NYBCS has been to identify the causes of inherited breast cancer among women of European Jewish ancestry, and by extension the causes of inherited breast cancer among women of all ancestries. Dr. King developed a new technology to identify particularly complex mutations in DNA that could not otherwise be detected. This year, Dr. King continued to adapt these advances to identify genetic causes of inherited breast cancer, including the identification of previously unknown structural gene variants in families severely affected by breast cancer. The team has preliminary evidence that normal inherited gene variations that subtly alter expression of the estrogen receptor protein may influence breast cancer risk.

What’s next

This coming year, Dr. King and her team will continue to study the gene variations among participants in the NYBCS and evaluate the relationship between expression of the estrogen receptor protein, age at breast cancer diagnosis and severity of breast cancer.


Mary-Claire King, PhD, is the American Cancer Society Professor at the University of Washington, Seattle. She was the first to show that breast cancer is inherited in some families because of mutations in the gene that she named BRCA1. In addition to inherited breast and ovarian cancer, her research interests include the genetic bases of schizophrenia, genetic disorders in children, and human evolution. She pioneered the use of DNA sequencing for human rights investigations.

Dr. King has been elected to the National Academy of Sciences, the American Academy of Arts and Sciences, the Institute of Medicine, the American Philosophical Society, and as a foreign member of the French Academy of Sciences. She has served on the Advisory Committee to the Director of National Institute of Health (NIH); the National Commission on Breast Cancer of the President’s Cancer Panel; multiple councils and study sections of the NIH; and as past president of the American Society of Human Genetics. In 2014, she received the Lasker Special Achievement Award for Medical Research and in 2016 the United States National Medal of Science.

BCRF Investigator Since


Donor Recognition

The Roslyn and Leslie Goldstein Award

Areas of Focus

Heredity & Ethnicity


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