An­gelina Jolie’s mas­tec­tomy has raised aware­ness of the test for the faulty BRCA 1 gene, which in­creases a woman’s risk of breast and ovar­ian can­cer. But the de­ci­sion to dis­cover what lies in your genes is not one to be taken lightly, says Carol Davis

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An­gelina Jolie’s dou­ble mas­tec­tomy has raised aware­ness of the faulty BRCA genes that in­creases the risk of breast and ovar­ian can­cer. But should you take the can­cer test?

When Ann Wilt­shire read that Hol­ly­wood ac­tress An­gelina Jolie had un­der­gone a dou­ble mas­tec­tomy at the age of 37 af­ter dis­cov­er­ing she car­ried the faulty BRCA1 gene – which sig­nif­i­cantly raises the risk of breast and ovar­ian can­cer – she knew ex­actly how she felt. For Ann, 52, had made the same de­ci­sion af­ter watch­ing her sis­ter Lyn Howlett bat­tle ovar­ian can­cer, and be­ing di­ag­nosed with the faulty gene just six months later. “It was a no-brainer,” says Ann. “I would lie awake in bed wor­ry­ing. I had many sleep­less nights, and it was af­fect­ing my life be­cause I was ter­ri­fied that I too would de­velop can­cer.” Her grand­mother had died of ovar­ian can­cer and she’d sup­ported her sis­ter through surgery to re­move a can­cer­ous tu­mour and while she started a drugs trial to keep the dis­ease in check.

So, like An­gelina, Ann chose a coura­geous route, with the sup­port of her hus­band Roger. Rather than un­dergo an­nual checks aimed at de­tect­ing early signs of the dis­ease, she had a hys­terec­tomy last Oc­to­ber and a dou­ble mas­tec­tomy with im­me­di­ate re­con­struc­tion in April this year.

Hav­ing now re­cov­ered from the eighthour gru­elling surgery, she has no re­grets. “My life­time risk of breast can­cer has now fallen from 80 per cent to just two per cent, which is won­der­ful,” she says.

What’s in a gene?

BRCA1 and BRCA2 be­long to a class of hu­man genes known as tu­mour sup­pres­sors, ac­cord­ing to the National Can­cer In­sti­tute. In nor­mal cells, BRCA1 and BRCA2 help en­sure the sta­bil­ity of the cells’ ge­netic ma­te­rial (DNA) and help pre­vent un­con­trolled cell growth. How­ever, mu­ta­tion of th­ese genes has been linked to the de­vel­op­ment of hered­i­tary breast and ovar­ian can­cer and women who carry a faulty copy of the BRCA1 or BRCA2 genes are at much higher risk of de­vel­op­ing both.

Breast can­cer is the most com­mon can­cer in women world­wide, ac­cord­ing to the­World Health Or­gan­i­sa­tion, and in the UAE it makes up around 23 per cent of can­cers in fe­males. Around five per cent of women with breast can­cer have a mu­tated BRCA gene. The gene vastly in­creased their life­time risk of de­vel­op­ing can­cer to be­tween 50 and 80 per cent by the age of 80 – they are also at in­creased risk of get­ting the dis­ease early in life. And while around 1.7 per cent of women get ovar­ian can­cer, among women who carry

a BRCA mu­ta­tion the risk can be as high as 60 per cent. Yet even women with rel­a­tives who have had breast or ovar­ian can­cer should not worry un­duly about the pos­si­bil­ity of them car­ry­ing the faulty gene, say ex­perts.

“Breast can­cer is a rel­a­tively com­mon can­cer, and around eight per cent of women will de­velop breast can­cer some time,” says Dr San­jida Ahmed, re­search di­rec­tor of Eastern Biotech & Life Sciences in Dubai, which in­tro­duced the BRCA test to the UAE in 2009. “An in­her­ited pre­dis­po­si­tion to de­velop breast can­cer be­cause of an al­ter­ation in a BRCA gene is un­com­mon, oc­cur­ring in about one in 20 cases of breast can­cer.”

At theWel­lWo­man Clinic in Dubai, con­sul­tant breast sur­geon Dr Houriya Kazim agrees. “Less than 10 per cent of cases are due to a ge­netic mu­ta­tion. Some women per­ceive them­selves as hav­ing high risk be­cause their grand­mother had breast can­cer at the age of 60 or 70. Med­i­cally, this would not be con­sid­ered high risk and we would not ad­vise th­ese women to have a ge­netic test.”

The pros and cons of test­ing

“I tell women only to pro­ceed to test­ing if they are will­ing to act on the re­sults – the woman should be pre­pared to re­move both breasts and per­haps both ovaries should she test pos­i­tive,” says Dr Kazim. “If she is not ready psy­cho­log­i­cally, then I would not do the test – it would give you a lot of anx­i­ety if you test pos­i­tive.”

Op­tions other than risk-re­duc­ing surgery in­clude close sur­veil­lance with an­nual mam­mo­grams and MRI scans, life­style changes such as los­ing weight or stop­ping smok­ing, or se­lec­tive anti-hor­mone drugs to re­duce risk, says Dr Kazim. How­ever, women who test pos­i­tive and do not go on to have riskre­duc­ing surgery can be re­fused health and life in­sur­ance cover, she points out. Those who do opt for test­ing are also ad­vised to have ge­netic coun­selling, as the whole ex­pe­ri­ence can be trau­matic. This in­volves a per­son­alised risk as­sess­ment be­fore the test, tak­ing into ac­count your fam­ily his­tory and med­i­cal

back­ground, and psy­choso­cial sup­port, fol­low-up and guid­ance through­out the pro­ceed­ings and af­ter­wards.

An­gelina Jolie’s de­ci­sion to have a dou­ble mas­tec­tomy was brave, says Dr Kazim. “It is never an easy de­ci­sion to make, even if you know you are car­ry­ing the mu­ta­tion. An­gelina’s pub­lic an­nounce­ment of her choice will cer­tainly help many women hav­ing to make their own de­ci­sions. This re­ally is an in­di­vid­ual is­sue.”

Rais­ing aware­ness

An­gelina’s story will change lives, be­lieves Louise Bayne, chief ex­ec­u­tive of ovar­ian can­cer char­ity Ova­come, which sup­ports women world­wide. “We were sad­dened to hear that An­gelina Jolie is a car­rier of the BRCA1 gene and like many thou­sands of women has ex­pe­ri­enced the loss of a loved one from ovar­ian can­cer,” she says, re­fer­ring to the ac­tress’s mother, Marche­line Ber­trand, who died of ovar­ian can­cer in 2007 at the age of 56. “How­ever, her de­ci­sion to make the knowl­edge of her surgery pub­lic has pro­vided a wel­come boost in aware­ness both about the BRCA mu­ta­tions and the im­por­tance of know­ing your fam­ily his­tory in breast and ovar­ian can­cer.” Women with a fam­ily his­tory of breast or ovar­ian can­cer should talk to their fam­ily doc­tors, she says, and a health pro­fes­sional may con­sider a re­fer­ral to a ge­neti­cist.

Fam­i­lies may also opt for test­ing, says Dr Ahmed. “If women carry a mu­tated gene it must have been in­her­ited from one of her par­ents, so each of her broth­ers and sis­ters has a 50 per cent chance of in­her­it­ing the mu­ta­tion,” she says. Men with harm­ful BRCA mu­ta­tions also have an in­creased risk of male breast can­cer and, pos­si­bly, of pan­cre­atic can­cer, tes­tic­u­lar can­cer, and early-onset prostate can­cer, ac­cord­ing to the National Can­cer In­sti­tute.

So who should se­ri­ously con­sider test­ing? “Fam­i­lies with a strong fam­ily his­tory of breast and/or ovar­ian can­cer should take the test to know their in­her­ited risk,” says Dr Ahmed. Mar­riage choices can also al­ter risk, she adds, since a faulty gene can be passed on from ei­ther side – whether or not it af­fects the first gen­er­a­tion.

For Ann Wilt­shire, though, the de­ci­sion to get the test and act on the re­sults was clear – she and Lyn are now sup­port­ing Ova­come be­cause of their ex­pe­ri­ences. “The trou­ble with ovar­ian can­cer is that it is of­ten de­tected too late to be suc­cess­fully treated be­cause it is of­ten con­fused with more com­mon prob­lems such as ir­ri­ta­ble bowel syn­drome and the menopause,” says Ova­come’s Louise. “Only a fifth of cases are di­ag­nosed early, but if it is caught early then the five-year sur­vival rate is more than 70 per cent.”

While mas­tec­tomy and hys­terec­tomy are both ex­treme op­er­a­tions, they are prefer­able to liv­ing with the high risk of can­cer for many faulty BRCA-gene car­ri­ers. In the pub­lic an­nounce­ment of her surgery, An­gelina Jolie was clear that hav­ing the op­er­a­tion hasn’t changed the way she feels about her­self and her fem­i­nin­ity – “On a per­sonal note, I do not feel any less of a woman,” she wrote in the New York Times ar­ti­cle. “I feel em­pow­ered that I made a strong choice that in no way di­min­ishes my fem­i­nin­ity.” Fol­low­ing her mas­tec­tomy, An­gelina Jolie is re­port­edly in­tend­ing to un­dergo an oophorec­tomy (re­moval of the ovaries) in or­der to min­imise her risk of ovar­ian can­cer.

Ann’s ex­pe­ri­ence has been equally pos­i­tive. “I feel re­ally lucky to have learned about the risk in good time, while I’m well, and been able to do some­thing about it,” Ann says. “Now I have the whole of the rest of my life to look for­ward to, with­out hav­ing to worry all the time.”

An­gelina Jolie’s pub­lic an­nounce­ment of her dou­ble mas­tec­tomy has raised aware­ness of the test for the faulty BRCA genes

This im­age shows a BRCA1 tu­mour sup­pres­sor pro­tein RING do­main, in com­plex with BARD1 pro­tein. BRCA1 mu­ta­tions are im­pli­cated in hered­i­tary breast and ovar­ian can­cer

Lyn Howlett, left, and her sis­ter Ann Wilt­shire are sup­port­ing ovar­ian can­cer char­ity Ova­come

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