Researchers find faulty gene responsible for some ovarian cancers

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The RAD51D gene is ordinarily involved in repairing damaged DNA. But, in rare cases of a mutation, women have about a one in 11 chance of developing ovarian cancer. The discovery is being called the most significant in ovarian cancer genetics in the last decade, according to Cancer Research U.K.

The researchers looked at the genomes of 911 families affected by hereditary ovarian and breast cancers. It was a fishing expedition to see if there was anything in the genome to account for the higher risk compared to the general population. They found that out of the 6,500 women diagnosed with ovarian cancer each year in the U.K., between 40 and 50 had a mutation in RAD51D.

"Women with a fault in RAD51D gene have a one in 11 chance of developing ovarian cancer. At this level of risk, women may wish to consider having their ovaries removed after having children to prevent ovarian cancer occurring," Professor Nazneen Rahman of the Institute of Cancer Research in London, told The Independent.

The solution also could come in the form of PARP inhibitors, already being used to treat breast and ovarian cancer caused by faults in the BRCA1 and BRCA2 genes. RAD51D is also sensitive to PARP inhibitors, Reuters reports, adding that Abbott, Merck, Pfizer, Sanofi-Aventis and AstraZeneca are developing PARP inhibitors.

Meanwhile, the website of the National Health Service in the U.K. is attempting to put this study into perspective. "Although women who carry mutations in RAD51D are estimated to be at about six times the risk of ovarian cancer than those who do not, this must be considered in context," reports NHS Choices. "The mutation itself is rare (estimated to be found in 0.1% of women), and carrying it does not guarantee that a woman will develop the disease. Also, it's thought that over 99% of women with ovarian cancer do not carry mutations in this gene."

- read the report on NHS Choices
- and Reuters filed this story
- and here's The Independent's take on the study

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