What are risky genes?

 

 RISKY GENES = HBOC SYNDROME

What is HBOC Syndrome?

HBOC syndrome stands for ‘hereditary breast and ovarian cancer syndrome’, a condition caused by certain gene mutations that can be passed down through families.  This term was developed at a time when scientists didn’t know yet about the other types of cancer these gene mutation carriers may also be susceptible to, so we often simplify with the term ‘risky genes’.  We define risky genes as any condition that causes a proven or deemed inherited predisposition to higher-than-general-population rates of breast and ovarian cancer and any of the related types of cancer, which includes prostate cancer. 

Hereditary Cancer is Different!

It is well-proven that risky gene carrier families experience a much higher rate of certain types of cancer, at younger ages, have higher rates of recurrence or a second primary cancer and their cancer tends to be more aggressive.  Cancer risk statistics vary, depending on the source, and are usually displayed in averages.  A risky gene carrier’s personal risk may fall above or below the ranges you see on this or other websites and are dependent on which gene is mutated and the mutation within that gene, along with a variety of other factors.  This is why it is essential that a medical genetics professional assess cancer risk.

Graph_Cancer Risk Gen vs HBOC

For many years scientists only knew about two risky genes – BRCA1 and BRCA2.  To this day, most of the research available is only about the BRCA genes, despite the fact many more genes have been discovered that also fall under the risky genes umbrella and more discoveries are expected.  Risky genes are known to cause a much higher risk of breast, ovarian and prostate cancer and slightly higher risk of some other types of cancer, depending on the mutation carried.

Both females and males can carry and pass down risky genes with a 50% chance that each biological child will also be a carrier.

The good news is that medical recommendations are in place to help prevent cancer or find it early, when most treatable.

The terms ‘HBOC syndrome’ and ‘risky genes’ may also be  used synonymously with ‘carriers’, ‘high risk’, or being ‘hereditary’ .  

How do risky genes cause higher risk of cancer?

Our DNA tells a cell how to operate through our genetic code. When genes become broken, or mutated, it affects their ability to do their job properly.  When inherited mutations are present in the genes responsible for our body’s ability to suppress tumors, as is the case with the genes that fall under HBOC syndrome, a person does not have the same ability to ward off or fight cancer.  This is why families affected by risky genes experience much more cancer than the general population, which is  more aggressive and is diagnosed at younger ages. It is important to know that an individual’s personal risk of cancer is dependent on the type of gene that is mutated, the type of mutation within that gene, and a variety of other factors. Not everyone who carries a mutation will develop cancer.

Both females and males can carry risky genes. If they are present in either biological parent, a person has a 50% chance of having inherited it and the same 50% chance of passing it on to their children.

For more information about what a genetic mutation is and how it is passed down please visit www.hbocsociety.org.

How common are risky genes?

There is a widespread perception that hereditary cancer is only a small problem, but this is definitely not the case.  The numbers continue to increase as more research becomes available, with today’s estimate being a staggering 1 million Canadians.

Certain ethnic groups have a higher chance of being risky gene carriers. These include those with Ashkenazi (Eastern European) Jewish ancestry who have a 2.5% (or 1 in 40) chance of carrying one of three specific (founder) BRCA gene mutations. Other ethnic and geographic populations with higher carrier incidence include the French Canadian, Norwegian, Dutch and Icelandic among others.

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Do I have risky genes?

While it is true that risky genes may be found in people without a strong family history of cancer, the cost of genetic testing is only covered for those who have a strong family history of the disease.   If you have enough of a family history, have been diagnosed with cancer at a young age, or are of an ethnic background that you suspect risky genes but don’t fulfill the criteria to qualify for government-insured genetic testing there are no-barrier, affordable genetic testing options available.

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How do I test for risky genes?

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

TIcon_My Family Historyhe first step is to compile and discuss your family history. If risky genes are suspected, ask for a referral to a genetics clinic or dedicated high risk clinic in your area.  Government genetic testing does not always include all of the newly discovered genes and, because it can’t find something that hasn’t been discovered yet, if no known mutations are found, your genetics professional may still deem your family as high risk based on family history and a variety of other factors.

If your family doesn’t have a history of cancer it does not mean you don’t carry a risky gene, but it is less likely.  If you still want to be tested for the first time, want to be re-tested with more comprehensive gene panels than were available when you received results in the past, or don’t want to wait months for your results there are affordable options available through private clinics or online.

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Do your homework.  Ensure you are choosing the service that is best for you and that it includes a counseling session from a qualified genetics professional.  We do not recommend ancestry sites, such as My23andme, for health purposes because they don’t usually include all of the risky gene mutations possible or include genetic counselling to interpret the results.  However, if you have received a positive result from an ancestry service, most regions will still provide genetic counselling through their health care services upon request.

Tip: 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 that have different feelings about whether or not to have testing, 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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