Breast Cancer Gene Testing

Breast Cancer Screening

Breast cancer gene testing is something you might want to consider if there’s a history of the disease in your family. But be aware that this is a difficult path to tread and if you go down it you could be opening a can of worms.

If you’re thinking of having a gene test, arm yourself with as much knowledge on the subject as possible, discuss the implications with your family and take your time before making a decision. Many family doctors lack sufficient knowledge about this one so you’ll need to find a specialist breast clinic where you can get all your questions answered and hopefully talk to a counsellor who’s trained in this particular field.

Only about 5-10% of breast cancer cases are due to inherited abnormal genes. The fact that several close relatives in your immediate family have been diagnosed with breast cancer doesn’t necessarily mean that they all have this faulty genetic code.

But if you’re living under the shadow of the disease, having watched your loved ones suffer with it and maybe die because of it, you may decide to undergo a genetic test to find out whether you’ve inherited faulty genes (what doctors call gene mutations). Scientists have identified two breast cancer genes known as BRCA1 and BRCA2 (breast cancer one and breast cancer two). Recent research has identified a third gene, called Chek2, which may put carriers at a higher risk of developing the disease.

The test comes back with bad news

The biggest question you’ll have to face, having decided to undergo a breast cancer gene test, is what are you going to do if it’s positive? If you’ve inherited one of these abnormal genes that means you’re at high risk of developing breast cancer. The trouble is that scientists can identify the faulty genes but they haven’t yet found a way to fix them.

Some women who have tested positive for the abnormal breast cancer genes have taken the radical step of having both breasts removed as a preventive measure. They felt they would rather live without their breasts than live with the fear of developing breast cancer.

Other women opt for preventive treatment, such as the estrogen-suppressing drug tamoxifen. You may decide not to undergo any preventive treatment but if you’re carrying the abnormal gene you’ll probably want to make sure you have regular screening for breast cancer, bearing in mind that the survival rates for women diagnosed and treated early are extremely good.

Routine genetic screening is not widely available because it’s expensive, mass screening simply wouldn’t be practical (scientists can test for hundreds of different genetic diseases these days) and there are ethical considerations.

In the UK, genetic testing for breast cancer is offered on the NHS to women at high risk (i.e. those with a strong family history of the disease). But because only part of the genetic code is tested a negative result is not wholly conclusive. In the USA there are more thorough tests carried out at private clinics but they’re extremely expensive. If you opt for a private test make sure you choose a clinic with a good reputation because there are a lot of dodgy characters feeding off women’s fear by advertising their dubious testing services on the web.


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