The Scottish Mail on Sunday

HOW THE TEST CAN HELP THOSE WITH ‘JOLIE GENE’

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WOMEN who carry the faulty BRCA gene, which accounts for one in five of the 7,000 ovarian cancer cases diagnosed each year, may also benefit from the new test.

One in two women who carry this genetic mutation will develop deadly ovarian tumours, so many choose to undergo pre-emptive surgical removal of the reproducti­ve organs. This reduces the risk dramatical­ly.

In March, actress Angelina Jolie became the highestpro­file celebrity to undergo this operation after discoverin­g she was a carrier of the BRCA mutation – which has since been dubbed the ‘Jolie gene’.

ROCA was subject to a separate trial on a group of women with this gene, yet to be published. However, the hope is it will allow more women with faulty BRCA genes to delay fertilitye­nding surgery by choosing ‘active surveillan­ce’: regular testing, with surgery only given if abnormalit­ies are flagged up.

Caroline Presho, 41, left, is a carrier of the BRCA gene. She was enrolled on one of the ROCA studies that looked at how the screening may help women with her specific medical circumstan­ces.

She said: ‘Having had close relatives die from ovarian and breast cancer, I underwent genetic testing in 2007. The positive result was a huge worry – although you are not ill, you know you could become very unwell, very quickly.

‘I had a mastectomy in 2009 and shortly after was enrolled on a ROCA trial. I was 35 at the time, and my doctors had said I wouldn’t need to have my ovaries removed preventati­vely until I was 40, but the concern was still there.

‘With breast cancer, there is often a lump or something you can feel, but for ovarian cancer, by the time you get symptoms it is often too late. That is a terrifying prospect.

‘On the other hand, surgery to remove the ovaries ends fertility and puts you into the menopause. Although I had three children I wanted another. I was at high risk of ovarian cancer and was screened over several years.

‘The test gave me a great sense of security until I chose to undergo surgery to remove my ovaries, once I’d had my youngest daughter.’

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