I have risky genes, what now?

You have been told you carry risky genes. But, do you know how much higher your cancer risk is and for which types of cancer?

Risky genes are complicated

To date, over twenty different risky genes have been discovered and within those genes thousands of different mutations are possible.  Unfortunately, researchers are not yet able to pinpoint a carrier’s individual cancer risk based on each specific mutation.  As a result, hereditary cancer risk tends to be reported in average ranges for each gene. Also, much of the available data is based only on the BRCA genes, because they were the first to be discovered.  It is important to know that hereditary cancer is still a relatively new science which is constantly changing as researchers learn more.  This creates variations in the cancer risk ranges you may see on the internet or elsewhere.

Here are some examples of how widely hereditary cancer risk statistics can vary:

Source: Nci.com

Source: Veritasgenetics.com

As a carrier, your risk can fall above or below reported cancer risk ranges because those ranges are based on averages.  Personal hereditary cancer risk is determined not only by which gene is affected and what may be known about the specific mutation within that gene, but also on a variety of other factors.  Only a genetics professional is qualified interpret genetic test results and assess hereditary cancer risk.

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How to protect yourself

Once you have received your personalized cancer risk assessment from a genetics professional, you will need to decide what course of action to take.  Thankfully, today there are a wide range of options that our parents and grandparents didn’t have to find cancer at an early stage or drastically reduce hereditary cancer risk.

Risk Reduction graphic

Early-age cancer screening

Cancer screening will not actually reduce your risk of cancer, but the goal is to find a cancer as early as possible, when treatment is likely to be most effective.  This can start as early as 25 for women and at 40 for men.  You may be also be susceptible to other types of cancer, depending on the mutation you carry.  Ask your doctor for more specific information about the screening options available for your situation.

Cancer Risk Reduction

Lifestyle

There is a large body of evidence to support that regular exercise, reducing the input of toxins and increasing intake of healthy foods will reduce your risk of cancer, whether or not you carry risky genes.  Since people who carry risky genes start out with a lower ability to fight cancer than those in the general population, it makes even better sense for carriers to reduce cancer triggers and build a healthy immune system.

Chemoprevention

In some cases, chemoprevention may be suggested in the form of a drug that can be taken to reduce cancer risk.  For example, the birth control pill may be recommended to protect against ovarian cancer (if you have already had a preventative mastectomy) or an estrogen-suppressing drug like tamoxifen to reduce the risk of breast cancer or a recurrence.

Preventative (Prophylactic) Surgery

The most effective cancer risk-reducing strategies by far are prophylactic (preventative) surgeries. For women this could mean removal of both breasts (double-mastectomy), with breast reconstruction if desired, and the removal of the ovaries and fallopian tubes. It may also mean a hysterectomy and removal of the top of the cervix, depending on the risks associated with the mutation you carry and your doctor’s recommendation.  Men can develop hereditary breast cancer too, but at a lower rate than women, so in rare cases may want to consider a preventative mastectomy.  There are no current surgical preventative strategies for prostate cancer.

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Be Your Own Advocate

Being a risky gene carrier is complicated and the issues are far reaching, requiring visits to many different health professionals, often over a period of many years. Typically, someone with risky genes will see several or all the following professionals through their screening and prevention journey, or in the event of a cancer diagnosis.  This makes it important to have genetic testing early, so there is plenty of time to consider fertility and other issues, make important decisions regarding prevention and have plenty of time to carry your decisions through.

  • General Practitioner – initial criteria assessment and provide genetic test options
  • Genetics Professional – assessment / testing / results
  • Imaging Specialist – screening
  • Fertility Specialist – fertility options and risks
  • Oncologist – chemoprevention and/or chemotherapy
  • General / Oncology Surgeon – biopsies / mastectomy / other cancer removal surgery
  • Plastic Surgeon – reconstructive surgeries
  • Gynaecological / Oncology Surgeon – ovary / fallopian tube / uterus / top of cervix removal
  • Menopause Specialist – symptom relief
  • Psychologist – family and/or partner issues and/or lack of support / body image / concern for children / other


Risky genes are still not well understood, even within our medical communities.
Here are some tips to help you ensure you are receiving the best care possible:

  • Purchase a notebook small enough to carry to every appointment. Write down questions for the doctor beforehand and write down all answers to ensure you don’t misinterpret anything.
  • Everyone has a right to their medical records. Periodically reviewing your history may help to connect the dots between different doctors and appointments. Having your notes and health records available when you visit a new doctor or when you need to provide your health history prior to surgery or for other reasons means you don’t have to rely on memory alone so will reduce omissions and errors.
  • If you don’t feel comfortable with your medical advice, get a second opinion.  Actress Rita Wilson was diagnosed with breast cancer on a second opinion. Had she listened to the first opinion it may have cost her life.  If something doesn’t feel right, question it. It is ok to say no, even to your doctor.
  • Do your own research, making sure to stick to reputable websites and organizations. Keep up on the latest news and research findings.
  • Many appointments are difficult and overwhelming, so bring along a relative or friend. It is not always possible to absorb everything being said, so a second set of ears is extremely helpful, and having someone with you has the added benefit of providing emotional support.

Get connected

Research suggests that being told one has risky genes is as traumatic as a cancer diagnosis. For those of us with risky genes who have also had cancer, we know this to be true. Part of what makes learning we carry risky genes so traumatic is that it is it is no longer just about us. We now have the added worry for family members, especially children. For carriers who don’t yet have a life partner or children, there is also the difficulty of facing decisions around fertility and wondering how this will affect romantic relationships.

There are so many tough decisions to make.  Will you start increased surveillance? Will you consider preventative chemotherapy or surgery? Now? When? Who will you tell? How do you tell other family members who may also carry your risky gene?  If you haven’t already, you may want to get connected to others so you don’t feel so alone and can get help with these and other difficult questions.

If you would like to chat with someone who can relate to what you are going through, please contact us.  If you are in a place where you feel ready to get involved in making a difference for your own cause, we need all the help we can get.  We look forward to hearing from you soon!

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