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Geneticist Mary-Claire King receives the 2013 Paul Ehrlich Prize
Date:3/14/2013

Genes for hereditary breast cancer

Mary-Claire King has investigated the genetic predisposition for cancer intensively since 1974. She has shown that breast cancer and ovarian cancer are inherited as an autosomal dominant trait. Some of the mutations responsible are to be found in a gene that King called BRCA1, which stands for breast cancer susceptibility gene 1. She first demonstrated the connection by means of statistical analysis, later through linkage analysis, and finally by allocating the gene to a specific chromosome. In 1990 King published the approximate position of the BRCA1 gene in the human genome: position 17q21. Afterwards, there was a neck-and-neck race to clone the gene, a race that Myriad Genetics ultimately won in 1994. King later presented the complete sequence of the BRCA1 locus with 84 kilobases.

BRCA1 and the BRCA2 gene, which was identified later, are tumor suppressor genes. The corresponding proteins have the task of ensuring the stability of the DNA and preventing uncontrolled growth. Carriers of these mutations have a higher risk in life for breast and ovarian cancer. BRCA mutations account for some five to ten percent of all breast cancers and ten to fifteen percent of all ovarian cancers. King also calculated the exact disease risk. "In severe mutations, the risk is 80 percent for breast cancer and 40 percent for ovarian cancer," says the geneticist. "In other words, 800 out of 1000 women with severe BRCA mutations are likely to develop breast cancer during their lifetime, and 400 out of 1000 women with severe BRCA mutations can be expected to develop ovarian cancer during their lifetime. The figures for the general population are 120 out of 1000 women who will develop breast cancer and 10 out of 1000 women who will have ovarian cancer," King explains. Professor King also developed new methods for the genetic diagnosis of these and other breast cancer mutations, though their commercial use in the USA is blocked by the
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Contact: Dr. Hildegard Kaulen
Paul-Ehrlich-Stiftung@pvw.uni-frankfurt.de
49-612-252-718
Goethe University Frankfurt
Source:Eurekalert  

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Geneticist Mary-Claire King receives the 2013 Paul Ehrlich Prize
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