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Medical News Today: High Risk Ovarian Cancer Gene Found In Landmark Study

Date: 20.10.2011 

Women with a faulty copy of a DNA repair gene called RAD51D have a 1 in 11 risk of developing ovarian cancer compared to 1 in 70 in the general population, according to a landmark Cancer Research UK-funded study led by Professor Nazneen Rahman at The Institute of Cancer Research (ICR) published in the 7 August online issue of Nature Genetics. There is hope that personalized treatment will be available sooner than usual because a class of drugs already developed showed promise in targeting affected cells.
Rahman, who is Professor of Human Genetics and Section Chair of Cancer Genetics at ICR told the press the study represents a significant step forward in our understanding of how faulty genes contribute to the development of some cases of ovarian cancer, and there is "real hope on the horizon that drugs specifically targeted to the gene will be available".

RAD51D repairs damaged DNA. When the gene is faulty, an important repair pathway fails, leaving damaged DNA to build up in cells, which increases the risk they will become cancerous.

For their study, Rahman and colleagues examined DNA from women in 911 families with ovarian and breast cancer and compared it to the DNA from a control group of 1,060 people in the general population (the controls).

They found eight inactivating RAD51D mutations in unrelated women with cancer, compared with only one in the controls...


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