Mary-Claire King, PhD
American Cancer Society Professor
Departments of Medicine and Genome Sciences
University of Washington
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 the disease develops.
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 severe mutations using genomic excision with CRISPR/Cas9 (“CATCH”) and long-read (“SMRT”) genomic sequencing that have been integrated to identify small RNA and DNA mutations, which she named SMRT-CATCH. This year, Dr. King continued to adapt these advances to identify genetic causes of inherited breast cancer and structural variants in families severely affected by breast cancer.
This coming year, Dr. King and her team will apply rapidly evolving genomic technology to discover complex mutations in DNA that could not otherwise be detected. They will apply this sequencing approach to evaluate families from the NYBCS. Dr. King is also exploring inherited genetic variation that subtly alters expression of the estrogen receptor. These subtle effects are not mutations, but normal changes in expression level of the gene that may influence breast cancer risk.
Mary-Claire King, PhD, is American Cancer Society Professor at the University of Washington, Seattle. She was the first to show that breast cancer is inherited in some families, as the result 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 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.
The Roslyn and Leslie Goldstein Award
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