I’ve been told there’s a fault in a gene in our family. What do I do now?

You may have received a “to whom it may concern” letter from a cancer genetics clinic, asking you to contact your doctor. These letters are sent out when a “faulty gene”  is identified in a relative who has had a cancer. Here is an example regarding the BRCA1 gene.

Firstly, it doesn’t mean that you will get cancer.  It doesn’t even mean that you have inherited the “faulty gene”.

What the letter is telling you, or your relative if you were notified in person, is that there is chance that a fault (usually called a mutation) in an important gene has been identified that is associated with an increased risk of cancer. These mutations can be inherited.  That is, the faulty copy of the gene is passed to a child, either from a mother via her egg or a father via his sperm.

What should you do now?

You should visit your doctor so that they can organise a referral to a familial cancer centre such as Sydney Cancer Genetics.

This does not mean that you have to have a genetic test.  It is an opportunity to find out more about what the particular gene is, what it does and what sorts of problems can arise when that particular gene isn’t working properly.

You can then decide to have blood taken for predictive genetic testing.  This will tell you whether you have inherited the genetic mutation or not. Your genetic oncologist, genetic counsellor or genetist will discuss the benefits and limitations of this testing, as well as any costs involved.

It is important not to ignore the situation. While in some cases the risk of particular cancers can be substantially increased, these risks can often be reduced again with increased screening and management.

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