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UK researchers uncover new high risk gene for ovarian cancer

BMJ 2011; 343 doi: https://doi.org/10.1136/bmj.d5102 (Published 09 August 2011) Cite this as: BMJ 2011;343:d5102
  1. Oona Mashta
  1. 1London

UK researchers say that they have discovered a faulty gene that raises the risk of developing ovarian cancer sixfold by the age of 80.

On average, women have a one in 70 chance of developing the disease, but those with the RAD51D gene mutation face a one in 11 chance, says the study, published online in Nature Genetics (doi:10.1038/ng.893).

The researchers, from the Institute of Cancer Research, examined DNA samples from women from 911 families with a history of ovarian and breast cancer and 1060 people from the general population aged 18 or above.

They discovered one mutation in the RAD51D gene—which has a key role in DNA repair—in one woman in the comparison group and eight mutations among eight women with a family history of …

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