Testing for ‘Jolie gene’ could prevent 80,000 cancer cases

TESTING all women over 30 for genetic mutations could save more than 80,000 from getting cancer, research suggests.

The faults, such as the BRCA gene mutation famously carried by Angelina Jolie, significantly raise cancer risk.

Currently only women known to have family with the dangerous genes are offered DNA blood tests. But experts at Barts Cancer Institute in London have calculated that if all 26million British women over 30 were tested, 64,500 would be spared breast cancer they would otherwise develop at some stage.

Another 17,500 would be saved from an ovarian cancer diagnosis, doctors said.

This works out at roughly 2 per cent of breast and 3 per cent of ovarian cancer cases being prevented every year. In all, 27,000 cancer deaths would be prevented.

The blood tests cost £175 each but the researchers calculated that the extra money to put in place a screening programme would be cost-effective because it pales in comparison to the cost of cancer treatment.

Diagnosing and treating a woman with breast cancer, for example, costs the NHS at least £30,000 – a figure that can soar if they require expensive hormone or immunotherapy treatments.

Mutated BRCA genes, and other mutations such as those of the RAD51, BRIP1 and PALB2 genes, cause a dramatically increased risk of developing certain cancers, particularly those of the breast, ovaries and fallopian tubes.

Only about three women in every thousand carry the genes, but for those who do, the consequences can be grave. A woman carrying a BRCA mutation, for example, has a 70 per cent chance of developing breast cancer, up from 12 per cent for other women, and 44 per cent chance of ovarian cancer, up from 2 per cent.

Actress Miss Jolie chose to have her breasts, ovaries and fallopian tubes removed in 2013, then aged 36, to reduce her risk after her mother died of ovarian cancer at 56. Around half of women who find out they are carrying the mutation choose to have surgery – the only effective way of reducing their risk – and the researchers based their calculations on the assumption this would stay roughly the same with population-wide screening.

Study leader Dr Ranjit Manchanda, consultant gynaecological oncologist at Barts, said: ‘Our findings support the concept of broadening genetic testing for breast and ovarian cancer genes across the entire population, beyond the current criteria-based approach.

‘This could prevent thousands more cancers than any current strategy, saving many lives.

‘As knowledge and societal acceptability of this type of testing increases, it can in the future provide huge new opportunities for cancer prevention and changes in the way we deliver cancer genetic testing.’

Athena Lamnisos, CEO of the Eve Appeal charity, which funded the research, said: ‘Whole-population genetic testing is cost- effective. The impact that this study could have on healthcare in the future for these cancers is promising and an exciting step forward in prevention.’

Samia al Qadhi, chief executive of Breast Cancer Care, said the ‘fascinating findings’, published in the in the Journal of the National

‘Exciting step forward’

Cancer Institute, suggested a ‘promising future of pinpointing everyone at high risk’.

But she said questions remained about how it would be rolled out in the ‘real NHS’, adding: ‘Being tested for a faulty gene is no walk in the park – preparing for possible life- changing results for a whole family is overwhelming and emotionally draining.

‘Support for people tested and for the tough decisions that can follow must be at the heart of any plans for population screening.’