Genetic Testing of Breast Cancer - BRCA1 and BRCA2

By Pankaj Sohaney

If you are concerned about familial breast cancer, the first step is to talk things over with your GP or Genetic Counsellor.

You will be asked about your family history and ethnic background, as well as any blood relatives, on either side of your family, who have had breast or related cancers.

If a faulty breast cancer gene has already been identified in a family member, you may be referred directly to a specialist genetic service.

Once your GP or Genetic Counsellor has taken a full family history, your risk of developing breast cancer can be assessed.

Most women will be at no greater risk than any other woman.

If this is the case your counsellor should discuss this with you and provide you with some written information on being breast aware and lifestyle risks.

However, if you develop any breast changes or if your family history or circumstances alter, it is important to go back and see your GP.

An increased risk

A small number of women may be viewed as having a greater risk of developing breast cancer on the grounds of a strong family history.

If this applies to you, you will be classified as having one of the following:

• a moderate risk • a high risk.

You will then be referred to either a family history clinic or a specialist in cancer genetics. The type of care you receive will be depending on your risk level.

Screening

Depending on your age, you may be offered a mammogram.

Women between the ages of 40 and 49 will normally be offered annual mammograms.

However, it is currently unclear how effective mammograms are in detecting breast cancer early in women at increased risk - clinical studies are currently researching this issue.

Because of this, women aged 30 to 39 will be offered mammograms only as part of a research study rather than as a matter of routine.

Women under the age of 30 are unlikely to be offered mammograms, as younger women's breast tissue is too dense to produce a clear mammogram picture.

Genetic counselling

If you are considered to be at high risk of developing breast cancer you will be offered specialist genetic counselling.

This will give you more information about your family history, how your lifestyle may affect you, what having a genetic test means, and the options available to you if you choose to go ahead with the test.

You may feel anxious about finding out about your risk of developing breast cancer, but remember that your counsellor is trained to deal with these issues.

Testing

The test (Screening of BRCA1 and BRCA2) is done by Eastern Biotech & Life Sciences, Dubai on a blood sample from a living relative who has already developed breast or ovarian cancer.

The results can take many months to complete, as it is technically very difficult to identify the faulty gene.

If it is found that you do carry the faulty gene, although you will not necessarily develop breast cancer, you do have a higher risk of doing so.

In Ashkenazi Jewish women, specialists already know that there are three specific gene faults in a large proportion of the families where breast and ovarian cancer is common.

This means that testing may be offered to relatives at high risk without needing to carry out the gene search.

Pankaj Sohaney is working as Manager in Eastern Biotech & life Sciences, UAE and involved in Genetic Testing for various disease.

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