Breast Cancer Break­through

HOPE FOR NEW TREAT­MENTS AF­TER SCI­EN­TISTS UN­COVER DE­TAILED PIC­TURE OF GE­NETIC EVENTS THAT CAUSE IT

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Largest ever study un­cov­ered 5 new genes as­so­ci­ated with breast

Could lead to more per­son­alised treat­ments for pa­tients in the fu­ture

Breast cancer’s se­crets have been cracked by sci­en­tists, who say they have a near per­fect pic­ture of the genes at the heart of the dis­ease. The land­mark re­search paves the way for new and bet­ter treat­ments – as well as ways of pre­vent­ing the dis­ease ever oc­cur­ring.

In fu­ture, doc­tors could use ‘ge­netic x-rays’ to de­cide on the best drugs for each in­di­vid­ual pa­tient. The re­searchers, from the renowned Well­come Trust Sanger In­sti­tute near Cam­bridge, said their study, the big­gest of its kind, marks a ‘very sig­nif­i­cant mo­ment for cancer re­search’. Breast cancer is caused by the DNA in the cells in a woman’s breast tis­sue gath­er­ing more and more mu­ta­tions as she gets older. Even­tu­ally, the dam­age is too great for her body to con­tain, and a tu­mour forms. To find out more, an in­ter­na­tional team of sci­en­tists spent seven years peer­ing deep into the DNA of breast tis­sue sam­ples from 560 pa­tients from around the world. Most come from women but a hand­ful were from men. By cap­i­tal­is­ing on ad­vances on tech­nol­ogy, they were able to read each of the 3 bil­lion let­ters that made up each per­son’s ge­netic code.

This un­cov­ered 93 genes, that if mu­tated, can cause breast tu­mours. Some had been dis­cov­ered be­fore, but with the new edi­tions, this is ex­pected to be a near definitive list.

Sanger di­rec­tor Pro­fes­sor Sir Mike Strat­ton said: “In the lat­ter part of the last cen­tury, we were able to iden­tify the first in­di­vid­ual genes that be­came mu­tated. “Now, with our abil­ity to se­quence the whole genome of very large num­bers of can­cers, we’re es­sen­tially mov­ing to a more or less com­plete list of these mu­tated cancer genes, so it’s a very sig­nif­i­cant mo­ment for cancer re­search.’

Cru­cially, each of these ge­netic er­rors is a weak­ness that could be ex­ploited by new drugs. While some medicines, such as

breast cancer ‘won­der drug’ Her­ceptin, are al­ready matched to a woman’s DNA, doc­tors want to be able to give ev­ery woman cus­tomised treat­ment. Re­searcher Dr Serena Nik-Zainal said: “In the fu­ture, we’d like to be able to pro­file in­di­vid­ual cancer genomes so that we can iden­tify the treat­ment most likely to be suc­cess­ful for a woman or man di­ag­nosed with breast cancer is a step closer to per­son­alised health­care for cancer.”

Sir Strat­ton said: “This is no longer spec­u­la­tion or hand-wav­ing.

“This huge study… shows it is pos­si­ble to se­quence in­di­vid­ual cancer genomes and this should lead to ben­e­fits for pa­tients.” The re­search, pub­lished in the jour­nal Na­ture and Na­ture Commu

nica­tions, could also shed light on what causes the mu­ta­tions, and so causes cancer.

The sci­en­tists iden­ti­fied 20 dif­fer­ent pat­terns of mu­ta­tion thought to have sep­a­rate causes. One was left by the BRCA1 gene, which is car­ried by ac­tress An­gelina Jolie, and greatly in­creases a woman’s odds of breast cancer. But the ori­gins of many of the other pat­terns re­main a mys­tery. Work­ing out what food, drink, habit or other fac­tor trig­gers the changes could lead to new ways of pre­vent­ing the dis­ease.

For in­stance, if a par­tic­u­lar chem­i­cal is found to be sin­is­ter, women could be told to avoid it, in the same way as they are ad­vised to quit smok­ing to cut their odds of lung cancer and wear sun­screen to pro­tect them­selves against skin cancer.

Ex­cit­ingly, the team turn the vast amount of in­for­ma­tion into a ‘ge­netic x-ray’ – an easy to read re­port.

This is vi­tal if the vast amount of in­for­ma­tion gen­er­ated by ge­netic anal­y­sis is to be of prac­ti­cal ben­e­fit to pa­tients. How­ever, the re­searchers cau- tioned that drugs based on to­day’s find­ings could take decades to de­velop and even then, they may not al­ways work. “Can­cers are de­vi­ous beasts and they work out ways of de­vel­op­ing re­sis­tance to new ther­a­peu­tics.

“Over­all, I’m op­ti­mistic but it’s a tem­pered op­ti­mism,” the re­searchers said. Dr Emma Smith, of Cancer Re­search UK, said: ‘This study brings us closer to get­ting a com­plete pic­ture of the ge­netic changes at the heart of breast cancer and throws up in­trigu­ing clues about the key bi­o­log­i­cal pro­cesses that go wrong in cells and drive the dis­ease. ‘Un­der­stand­ing these un­der­ly­ing pro­cesses has al­ready led to more ef­fec­tive treat­ments for pa­tients, so ge­netic stud­ies on this scale could be an im­por­tant step­ping stone to­wards de­vel­op­ing new drugs and boost­ing the num­ber of peo­ple who sur­vive cancer.’

Breast cancer is caused by the DNA in the cells in a woman’s breast tis­sue gath­er­ing more and more mu­ta­tions as she gets older. This study brings us closer to get­ting a com­plete pic­ture of the ge­netic changes at the heart of breast cancer and throws up in­trigu­ing clues about the key bi­o­log­i­cal pro­cesses that go wrong in cells and drive the dis­ease Dr Emma Smith Cancer Re­search, UK

Photo: Daily Mail

Sci­en­tist from Cam­bridge-based Well­come Trust Sanger In­sti­tute re­vealed what ge­netic vari­a­tions ex­ist in breast can­cers and where they oc­cur in the genome.

Photo: Daily Mail

The re­search, pub­lished in the jour­nal Na­ture and Na­ture Com­mu­ni­ca­tions, could also shed light on what causes the mu­ta­tions, and so causes cancer.

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