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 are susceptible to, so we often simplify with the term ‘risky genes’. We define risky genes as any condition that causes a proven or deemed hereditary predisposition to higher-than-general-population rates of breast OR ovarian cancer and any of the related cancers.
Hereditary Cancer is Different!
It is well-proven that risky gene carrier families experience a much higher rate of cancer, often at younger ages and it tends to be more aggressive. Cancer risk is displayed in averages, which means a particular risky gene carrier’s cancer risk may fall above or below the ranges you may see on this or other websites. It also varies depending on the gene that is mutated and a variety of other factors. This is why it important that a medical professional assess cancer risk.
For many years scientists only knew about two risky genes – BRCA1 and BRCA2. To this day, most of the research we have about this type of hereditary cancer is on the BRCA genes. More recently, many more genes have been discovered that fall under the risky genes umbrella and more will continue to be. Risky genes can cause some other types of cancer too, but risk for these other cancers is only slightly-higher than general population rates and is dependent on on the type of mutation.
Both females and males can carry, and pass down, risky genes with a 50% chance that each biological child will also be a carrier.
Some people with risky genes will not develop cancer, but there is no way to know who those people are. The good news is that medical recommendations are in place to help prevent cancer or find it early, when it’s most treatable.
The terms ‘HBOC syndrome’ and ‘risky genes’ may also be used synonymously with ‘carriers’, ‘high risk’, or ‘hereditary’ .
Discovery of Risky Genes
BRCA1 and BRCA2 were discovered in the mid-nineties, and stand for ‘breast cancer 1′ and ‘breast cancer 2′. Later researchers discovered that mutations in the BRCA genes not only caused a high risk of breast cancer, but also ovarian, prostate and some other cancers, at only slightly higher risk levels. To date scientists have still only explained a portion of hereditary cancer so there is still much work to do.
How do risky genes cause higher rates 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 hereditary mutations are present in the genes responsible for our body’s ability to suppress tumors a person does not have the same ability to ward off or fight cancer which increases the risk of being diagnosed with one or more types of cancer.
Because risky genes reduce the body’s ability to ward off and fight cancer, affected families experience cancer at a much higher rate than the general population, which may tend to be more aggressive and is often diagnosed at a younger age. 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 specific information about what a genetic mutation is and how it is passed down please visit www.hbocsociety.org.
Actress Angelina Jolie Pitt has risky genes. She gave awareness a huge boost when she shared her genetic status and subsequent preventative measures in the New York Times. Although most people have now heard of hereditary cancer, a follow-up study reported there is still a long way to go when it comes to education.
How common are Risky Genes?
There is a widespread misperception that risky genes is only a small problem, but this is definitely not the case.
Also, certain ethnic groups have a much higher chance of being risky gene carriers. For example, people of Ashkenazi (Eastern European) Jewish ancestry have a 2.5% (or 1 in 40) chance of having a mutated BRCA gene. Other ethnic and geographic populations with higher carrier incidence include the French Canadian, Norwegian, Dutch and Icelandic among others.
What are the RED FLAGS I should look for in my family?
While it is also true that risky genes may be found in people without a strong family history of cancer, the cost of genetic testing tends to be covered for those who have a family history of disease. This criteria may be slightly different depending on where you live, but here is a list of typical red flags:
■ Multiple individuals with breast and/or ovarian cancer
■ Breast cancer in both breasts
■ Breast and ovarian cancer in the same individual
■ Breast cancer at age 40 or younger
■ Breast cancer that is ‘triple negative’ at 50 or younger
■ Breast or ovarian cancer in a families with Ashkenazi Jewish heritage
■ Men with breast cancer
■ Multiple individuals with uterine, stomach, colon, prostate, melanoma or pancreatic cancer
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
The 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 cover 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.
Depending on the region you live in, it may take months to get into a government-run genetics clinic and you may face another lengthy wait for results.
If your family doesn’t have a cancer history as described in the red flags section above it does not mean you don’t carry a risky gene, but it is less likely. If you still want to be tested, want to be re-tested with more comprehensive gene panels, or don’t want to wait months for your results there are affordable consumer-pay options available that can be ordered through private clinics or online through your own doctor or the service’s medical professionals. To learn more, please contact us.
There are many online options, some of which may not be appropriate for this purpose. Do your homework. Ensure you are choosing the service that is best for you and includes a counseling session from a qualified genetics professional. Please contact us to learn more.
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.