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• Women who test positive for<br />

the BRCA2 mutation also have a<br />

50-85% lifetime chance of getting<br />

breast cancer and a 10-20% lifetime<br />

risk of ovarian cancer<br />

• Those with the BRCA1 or BRCA2<br />

mutation have a 50% chance of<br />

passing the mutation on to each of<br />

their children<br />

• Both men and women<br />

can have a BRCA1 or<br />

BRCA2 mutation, and<br />

these mutations can be<br />

inherited from one’s<br />

mother or father<br />

• BRCA1 and BRCA2<br />

mutations also<br />

increase prostate<br />

cancer risks among<br />

men, and in particular<br />

mutations in the<br />

BRCA2 gene also<br />

increase the risks for<br />

pancreatic cancer,<br />

melanoma, and male<br />

breast cancer<br />

• BRCA mutations occur<br />

in individuals of all<br />

ethnic backgrounds,<br />

but are more common<br />

in certain populations. About 1 in<br />

50 Ashkenazi Jews has a BRCA1<br />

or BRCA2 mutation that increases<br />

the risks for breast, ovarian and<br />

related cancers. French <strong>Canadian</strong>s<br />

of certain ancestry may be at<br />

increased risk. There are common<br />

BRCA mutations in the Icelandic<br />

and Dutch populations<br />

• Although they are at increased risk,<br />

not all people with BRCA1 or BRCA2<br />

mutations will develop cancer<br />

According to the genetic counsellors,<br />

people are often unaware that women<br />

with inherited ovarian cancer are at<br />

increased risk for breast cancer while<br />

those with inherited breast cancer are<br />

at higher risk for ovarian cancer.<br />

While the statistics can be daunting,<br />

Armel believes that genetic counsellors<br />

can be of great assistance as “tour guides<br />

that lead people down a path and help<br />

them decide what is right for them.”<br />

There is an education component, which<br />

involves helping the patient understand<br />

genetic testing and reaching a decision<br />

about whether or not to be tested.<br />

Genetic counselling can also encompass<br />

trying to sort out inconclusive test<br />

results, or helping a person come to<br />

terms with a positive result and then<br />

developing a plan of action.<br />

What can a woman do if she tests<br />

positive for a BRCA mutation and is at<br />

increased risk of developing cancer?<br />

Susan Armel (Left) and Rochelle Demsky (Right)<br />

For ovarian cancer: Regular<br />

monitoring (pelvic or transvaginal<br />

ultrasound and a CA125 blood test);<br />

oral contraceptives (birth control pill);<br />

prophylactic oophorectomy (surgical<br />

removal of ovaries and fallopian<br />

tubes); and hysterectomy (removal of<br />

the uterus).<br />

For breast cancer: Screening (breast<br />

self-exams, clinical breast exams,<br />

mammograms and MRIs); medications<br />

such as Tamoxifen; prophylactic<br />

oophorectomy (surgical removal<br />

of ovaries and fallopian tubes); or<br />

prophylactic mastectomy (surgical<br />

removal of the breasts).<br />

Genetic counselling and testing are<br />

concentrated in major <strong>Canadian</strong> centres.<br />

Some provinces and territories access<br />

these services through other provinces.<br />

Patients from smaller communities<br />

and rural or remote regions may avoid<br />

significant travel by accessing genetic<br />

counsellors via Telehealth Ontario. If a<br />

person decides to proceed with testing<br />

after counselling, a blood sample can be<br />

taken by local health professionals and<br />

sent in for analysis.<br />

Some of the newer trends in genetic<br />

counselling involve group sessions for<br />

the teaching component, followed by<br />

individual sessions with each patient.<br />

Depending on the patient’s wishes,<br />

some centres will provide test results<br />

by phone, followed by<br />

an in-person meeting<br />

with their counsellor to<br />

explore options.<br />

Armel and Demsky<br />

can envision the day<br />

when genetic testing<br />

is routinely used to<br />

help determine a<br />

course of treatment for<br />

those diagnosed with<br />

hereditary breast or<br />

ovarian cancer.<br />

In the meantime,<br />

while acknowledging<br />

the challenges of the<br />

job, they say genetic<br />

counselling offers<br />

many rewards. Says<br />

Armel: “Although testing isn’t right for<br />

everybody, we feel that we are helping<br />

prevent cancer and I think our patients<br />

see it that way too.”<br />

For more information, please visit:<br />

Hereditary <strong>Breast</strong> and Ovarian<br />

<strong>Cancer</strong> Foundation<br />

www.hboc.ca<br />

Hereditary <strong>Breast</strong> and Ovarian<br />

<strong>Cancer</strong> Society<br />

www.hbocsociety.org<br />

FORCE: Facing Our Risk of <strong>Cancer</strong><br />

Empowered<br />

www.facingourrisk.org<br />

Willow <strong>Breast</strong> <strong>Cancer</strong> Support<br />

Canada<br />

Visit www.willow.org or call<br />

1-888-778-3100<br />

To find a genetic counsellor, contact<br />

your family physician as a first point<br />

of reference; also refer to the <strong>Canadian</strong><br />

Association of Genetic Counsellors at<br />

www.cagc-accg.ca . •<br />

20 <strong>Network</strong> <strong>News</strong> <strong>Winter</strong>/<strong>Spring</strong> <strong>2010</strong>

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