‘Jolie gene’ tests would cut can­cer in women

The Sunday Telegraph - - Front page - By Laura Don­nelly HEALTH EDITOR

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.

An­gelina Jolie had a dou­ble mas­tec­tomy to re­duce her risk of de­vel­op­ing can­cer after dis­cov­er­ing she car­ried the gene

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