Having risky genes is complicated and far reaching, requiring a wide spectrum of professional care from a variety of disciplines, often over a period of many years. Typically, a carrier will see several or all of the following medical professionals through their screening and/or prevention journey:
General Practitioner – initial criteria assessment and referral for genetics testing
Genetics Professional – assessment / testing / results / counselling
Imaging Specialist – cancer screening
Fertility Specialist – fertility options and risks
Oncologist – chemoprevention
General / Oncology Surgeon – biopsies / preventative mastectomy
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
HBOC syndrome was discovered just over twenty years ago. Since a research cycle is typically 20 years, we are really only just starting to understand this syndrome and there is a long way to go. HBOC syndrome is not often well understood, even in our medical communities. Here are some tips to help you ensure you are receiving the best care possible:
Cancer Screening and Prevention
CANCER RIsk UP
cancer risk up
Lifestyle changes have been well-proven to be effective in reducing cancer risk. So much so, that a recent health services study suggests up to half of all cancer is preventable through lifestyle choices. Having an inherited risky gene that already puts one at high risk for cancer means reducing outside cancer triggers is even more important than for those in the general population.
catch PROSTATE cancer
early, when most
The birth control pill has been proven to reduce the risk of ovarian cancer for BRCA mutation carriers and may be recommended as a preventative measure. However, research supports the birth control as a risk factor for breast cancer so be cautious if breast are still intact.
In certain cases, your medical professionals may suggest other drugs that can be taken to reduce your risk of getting cancer (e.g. tamoxifen). There are side effects from all drugs, so weigh the risks.
Preventative (Prophylactic) Surgery
The most effective risk-reducing strategies have been proven to be in the form of prophylactic (preventative) surgeries. For women this could mean removal of both breasts (double-mastectomy) followed by breast reconstruction (if desired) and removal of the ovaries (and fallopian tubes). It may also mean a hysterectomy and removal of the top of the cervix, depending on your personal risk factors and your doctor’s recommendation.
Males may choose double-mastectomy where their personal risk warrants it, but there are currently no surgical strategies available to prevent prostate cancer.
Cancer screening will not actually reduce your risk of cancer. The goal is to find a cancer as early as possible, when treatment is likely to be most effective. Early screening for female risky gene carriers usually begins at the age of 25 and for males at the age of 40. This may include:
■ practicing self-awareness
■ breast screening (e.g. mammogram, MRI)
■ abdominal exam
■ ovarian screening (internal ultrasound, CA 125)
■ cervical screening
■ prostate exam (PSA)
■ screening for other types of cancer
In some cases screening will begin earlier than 25. Ask your medical professionals for more specific information about the screening options available for your situation.
Personal cancer risk for HBOC syndrome varies, depending on the risky gene that is mutated and the type of mutation within it, as well as a variety of other factors. How to proceed after one learns they carry risky genes is a very personal decision.
■ Know the latest key research findings
■ Stick to reputable websites and organizations
■ Keep up on the latest news
■ Subscribe to our e-bulletin
■ Take someone with you to medical appointments to take notes
■ Write down questions beforehand to ask the doctor
■ Ask for a copy of your medical records
■ Have 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
■ Speak up. If something doesn’t feel right, question it. It is ok to say no, even to your doctor
■ Get a second opinion if you think you need one