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Mary-Claire King

In 1990 she showed that a single gene on chromosome 17, BRCA1, causes inherited breast and ovarian cancer, when most of the field doubted such a gene existed. Genetic testing and risk-reducing care followed.

Mary-Claire King, then at the University of California, Berkeley, spent seventeen years studying families with many cases of breast cancer and in 1990 published linkage of early-onset breast cancer to a region of chromosome 17q21, establishing that a hereditary form of the disease existed and naming the gene BRCA1. The gene itself was cloned in 1994 by Mark Skolnick's team at Myriad Genetics and Utah, and BRCA2 was identified in 1995 by Michael Stratton's group. Her finding opened clinical genetic testing, risk-reducing surgery and surveillance for carriers, and later the PARP inhibitors that exploit BRCA-deficient tumours. She has argued for population screening of BRCA1 and BRCA2 in all women over 30. King also used mitochondrial DNA to reunite children abducted during Argentina's dictatorship with their grandmothers, and received the Lasker Award in 2014 and the National Medal of Science in 2016.

Role
Geneticist who proved inherited breast cancer exists and mapped BRCA1
Specialisms
Human geneticsHereditary breast and ovarian cancerBRCA1

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