‘Jolie gene’ tests would cut cancer in women
TENS of thousands of women should be offered gene tests to cut cases of breast and ovarian cancer in the next decade, according to a major study.
Research has found that testing survivors and tracing their family when mutations are found can identify twice as many women at high risk of the disease as the current approach. Doing so means those found to be carrying BRCA mutations – dubbed the “Jolie gene” after the actress Angelina Jolie, who underwent a double mastectomy – could be offered closer monitoring, and preventive measures, such as a mastectomy or removal of the ovaries.
Those with the mutations can have up to an 85per cent chance of developing breast cancer – seven times the rate for an average woman. The study by the Royal Marsden Hospital and the Institute of Cancer Research suggests the approach could prevent more than 11,000 cases of cancer in a decade – and
save more than 2,000 lives. Experts said the findings could result in a “huge change” to NHS cancer policies. Nine in 10 ovarian cancer sufferers with the mutation could have been protected from the disease, researchers said.
GPs currently ask women about their family history and then offer gene tests. But the study has found that this approach is unreliable, missing around half of all cases with the mutation.
Instead, it recommends that 27,000 women a year – all those diagnosed with ovarian cancer, and around one third of those with breast cancer – undergo the tests. When mutations are found, checks should be offered to all relations, researchers said.
Researchers from the Royal Marsden said the new standard offered the best chance of identifying those at risk, slashing cancer rates. The London cancer centre has already introduced the criteria.
The study, presented at the National Cancer Research Institute Cancer Conference in Liverpool tomorrow, tested the criteria on 1,020 patients – and found 110 had a BRCA mutation – giving an overall detection rate of 10.8per cent. If standard NHS criteria, relying on knowledge of family history, had been used, half of the cases would have been missed, the study found.
The research found the system was also cost effective, with sums saved from preventing 1,157 cases of cancer annually funding the bulk of the tests.
Prof Nazneen Rahman, lead researcher from the Institute of Cancer Research and the Royal Marsden NHS Foundation trust, urged the NHS to move swiftly to the new system.
The new approach – finding the mutation first, and then identifying those likely to carry it – appeared to be far more accurate, and could give thousands of women the option to have tests that could protect their health.
“1,000 women a year with ovarian cancer will have it because they have the BRCA mutation,” she said. “If they had known, 900 of them would have had their ovaries removed so they wouldn’t have developed that cancer. That shows why the system has to change.”
NHS England, which sets national policies on BRCA testing, which are due to be reviewed, said the findings would be closely examined.