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Researchers Identify Faulty Gene Associated With Ovarian Cancer Development

British researchers identified a faulty gene associated with a one-in-11 chance of developing ovarian cancer, and they think drugs for breast cancer might also work in these women.

Ovarian carcinoma, from ACP's book Practical GynecologyResearchers from England’s Institute of Cancer Research reported that they compared DNA from women from 911 families with ovarian and breast cancer and to a control group of 1,060 people from the general population.

They found eight gene faults in theRAD51Dgene in women with cancer, compared with one in the control group. TheRAD51Dgene repairs damaged DNA, and when it’s faulty, cells are more likely to turn cancerous.

Results appear online at Nature Genetics. The association was principally with ovarian cancer. Three mutations were identified in the 59 pedigrees with three or more individuals with ovarian cancer (P=0.0005). The relative risk of ovarian cancer for RAD51D mutation carriers was 6.30 (95% confidence interval, 2.86 to 13.85, P=4.8 x 10-6).

Cells lacking RAD51D are sensitive to treatment with PARP inhibitors, suggesting a possible therapeutic approach for cancers arising in RAD51D mutation carriers. Cancer Research UK, a charity that sponsored the trials, reported on its blog that PARP inhibitors originally designed to treat breast, ovarian and prostate cancers carrying faulty BRCA genes might also work against ovarian cancers with RAD51D faults. Lab studies showed that PARP inhibitors tested on cells lacking RAD51D led to 90% of cells dying, compared to 10% of cells with fully functional RAD51D.

*This blog post was originally published at ACP Internist*


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