Do I have risky genes?

What are risky genes?

Risky genes’ is another term for ‘hereditary breast and ovarian cancer (HBOC) syndrome‘.  HBOC syndrome is the presence of certain inherited mutations that cause a carrier to experience a higher-than-general-population risk of certain types of cancer.  It was initially thought to increase risk of only breast and ovarian cancer, as a result of inherited mutations in one of two genes.  Today, researchers know of several other types of cancer and many more genes that also fall under the HBOC syndrome umbrella, although breast and ovarian cancer remain predominant.  Risky genes can be carried by both sexes, both can develop hereditary cancer and both can pass their risky genes to any biological children, who have a 50% chance of also being a carrier.

A portion of all cancer is hereditary. In the case of breast and prostate cancer that percentage is at least 10% and for ovarian cancer it has been reported to be as high as 25%.  All cancer occurs as a result of multiple mutations in our genes that build up over a lifetime. In the case of risky gene carriers, they already had a mutation in one or more of the genes responsible for tumor suppression before they were born.

Other terms sometimes used to describe this condition include ‘the breast cancer gene’, being ‘high risk’, ‘hereditary’ or the specific gene that is affected, e.g.  ‘BRCA’.

What is the difference between hereditary and spontaneous cancer?

Hereditary cancer is more dangerous than spontaneous cancer. It is diagnosed much more often in affected families, at younger ages, has a higher rate of recurrence or a second primary site and is more aggressive.  Many risky gene carriers experience cancer as early as in their 20’s and 30’s, in the prime of their lives. To make matters worse, some research reports this type of hereditary cancer is being diagnosed up to a decade earlier in subsequent generations.

Important: Not all risky gene carriers will develop cancer, but the chance is much higher than for those in the general population

Graph_Cancer Risk Gen vs HBOC

Knowledge is power.  There is no way to predict whether spontaneous cancer will occur, but those who are aware they carry risky genes have the ability to make informed health choices that will allow them the opportunity to find cancer early, when most treatable, or prevent a potential cancer diagnosis. Risky gene carriers, once identified, gain access to  medical recommendations that provide for early-age cancer screening and prevention options, the latter well-proven to reduce cancer risk by up to a staggering 96%!

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How common are risky genes?

This type of hereditary cancer is often reported by media and the medical community as being only a small problem.  This is definitely not the case.  As researchers continue to learn more the numbers climb.  Today, there are well over 1 million Canadians estimated to be risky gene carriers.

While it is true that risky genes may be found in anyone, they are more likely to be found in persons with a certain family cancer history or ethnic background, most notably in those of Ashkenazi Jewish decent.

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How do I test for risky genes?

Important: Genetic tests may affect your ability to purchase some types of insurance. Make sure you have policies in place BEFORE considering genetic testing.

Icon_My Family HistoryThe first step is to compile your family cancer history and discuss it with your doctor. If you fulfill the criteria for government-insured genetic testing, ask for a referral to a local genetic or high risk clinic.  If you have a blood relative who has a confirmed risky gene mutation, you will automatically qualify.

If you have been previously tested and returned a negative result, you may want to be re-tested with newer, more comprehensive gene panels.

If you don’t fulfill the government criteria but still want to be tested, you can find affordable genetic testing services at private clinics or online.  When searching for a service it is important to do your homework because all genetic tests are not created equal.  Some test for only a few mutations and some use comprehensive gene panels.  We recommend a service that includes all recently discovered genes and provides genetic counselling to interpret the results.  A good option is Color Genomics.

Important: You or your family doctor should never interpret genetic test results.  Only a genetics professional is qualified to do so.

Ancestry sites, such as My23andme are not recommended!  

Many ancestry services have added health services to their repertoire but they do not use comprehensive gene panels, nor do they provide genetic counselling to properly interpret results.  However, if you have received a positive result from one of these services, most health regions will provide you with genetic counselling.

Because genetic tests can’t find something that hasn’t been discovered yet and there remain more genes to be discovered, if no known mutations are found, your genetics professional may still deem you as high risk based on family history and a variety of other factors.

Genetic test results may lead to a variety of reactions that can cause stress in families.  This is especially true if you have family members who have different feelings about whether to test themselves, or what should be done after a positive test result.

If you would like information or support before, during and after the testing process please contact us.

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