Once an HBOC syndrome gene mutation has been found, or a person deemed as ‘high risk’ based on other factors, earlier cancer screening is likely be recommended and options to reduce the risk of cancer will be discussed. Recommendations may vary slightly depending on your region.
Be Your Own Advocate
Having an HBOC syndrome mutation is complicated and far reaching, requiring a wide spectrum of professional care from a variety of disciplines over a period of many years. Typically, a carrier will see several or all of the following medical professionals through their prevention journey or in the event of a cancer diagnosis.
General Practitioner – initial criteria assessment and referral for genetics testing
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 – sympton relief
Psychologist – family and/or partner issues and/or lack of support / body image / concern for children / other
Being a fairly new science, 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.
- Knowledge is power. Know the latest key research findings (see below). Stick to reputable websites and organizations. Keep up on the latest news. Subscribe to our Bulletin.
- Take someone with you to key appointments. Many of the appointments HBOC Syndrome carriers attend 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 also provides emotional support.
- Take notes. Purchase a notebook small enough to carry to every appointment. Write down questions for the doctor beforehand and write down all answers. Again, if possible ensure a second person is taking notes as they will not be as emotionally overwhelmed, so will be less likely to misinterpret or miss something.
- Ask for a copy of your medical records. Everyone has a right to their medical records. Perodically 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.
- 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 possible. Actress Rita Wilson was recently diagnosed with breast cancer on a second opinion. Had she listened to the first opinion it may have cost her her life.
Learn more: Ottawa Citizen Article
Key Research Findings
Unfortunately, hereditary cancer is too often painted with the same brush as spontaneous cancer. Because hereditary cancer research is just beginning to roll in, your medical professionals may not be aware of the differences between hereditary and spontaneous cancer or some of the most recent research findings. One of the world leaders in familial breast cancer cancer, Dr. Stephen Narod, has armed us with additional information to help guide in our decision-making and share with our doctors. Here are some of their key findings:
Pregnancy: Carriers of the BRCA1 and BRCA2 gene mutations who have children are significantly more likely to develop breast cancer by age 40 than carriers who have not had any children. Each pregnancy is associated with an increased cancer risk. An early first pregnancy does not mean protection for carriers of BRCA1 or BRCA2 mutations.1
Breastfeeding: Women who have a BRCA1 mutation and breast-fed for a cumulative total of more than one year had a statistically significant reduced risk of breast cancer.2
Oral Contraceptives: Oral-contraceptive use may reduce the risk of ovarian cancer in women with mutations in the BRCA1 or BRCA2 gene. Among BRCA1 mutation carriers, women who first used oral contraceptives before 1975, who used them before age 30, or who used them for five or more years may have an increased risk of early-onset breast cancer. Oral contraceptives do not appear to be associated with risk of breast cancer in BRCA2 carriers, but data for BRCA2 carriers is limited.4
Fertility Drugs: The use of fertility medications does not adversely affect the risk of breast cancer among BRCA mutation carriers. However, the impact of fertility drug use among BRCA mutation carriers has not been studied closely due to the small number of carriers who have used fertility drugs. Any findings should be interpreted with caution. Further studies are required in this field. 5
Tubal Ligation: Tubal ligation is a suitable option to reduce the risk of ovarian cancer in women with BRCA1 mutations who have completed childbearing.6
Oophorectomy: The high incidence of ovarian cancer suggests that oophorectomy (surgical removal of the ovaries) should be recommended in female BRCA1 and BRCA2 mutation carriers with a diagnosis of breast cancer, especially those with stage I disease. Breast cancer systemic therapy did not significantly alter the risk of ovarian cancer.7
Oophorectomy: is an effective means of reducing the risk of breast cancer in carriers of BRCA1 mutations. The data suggests oophorectomy is protective in BRCA2 carriers as well, but this needs to be confirmed in other studies.8
Oophorectomy: is associated with a reduced risk of ovarian and fallopian tube cancer in high-risk women, although there is a substantial residual risk for peritoneal cancer in BRCA1 and BRCA2 mutation carriers following prophylactic salpingo-oophorectomy (a type of preventive surgery performed by removing the fallopian tubes and ovaries).9
Tamoxifen: Tamoxifen, a drug used in the treatment of breast cancer, has been shown to reduce the risk of contralateral (affecting both breasts) breast cancer in women with mutations in the BRCA1 or BRCA2 gene. The protective effect of tamoxifen seems independent of that of removal of the ovaries.10
The protective effect of tamoxifen was not seen among women who had their ovaries removed but this subgroup was small. In contrast, a strong protective effect of tamoxifen was apparent among women who were premenopausal or who had undergone natural menopause.11
The risk of contralateral breast cancer: in women with a BRCA mutation is approximately 40 per cent at 10 years after the first breast cancer diagnosis, and is reduced in women who take tamoxifen or who undergo an ovary-removal surgery.12
Screening and Preventive Practices: No association between ever having screening mammography and risk of breast cancer. Prospective studies are needed to confirm the results.13
Other: Early chest X-rays may be a risk factor for breast cancer in BRCA1 carriers.14
Prostate Cancer: Men with BRCA2 mutations have been found to be at increased risk of developing prostate cancer. It may be important to develop targeted chemotherapies to treat prostate cancer in men with a BRCA2 mutation.15
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. Early screening for female HBOC syndrome 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)
- prostate exam
- cervical exam
Ask your medical professionals for more specific information about the screening options available for your situation.
Cancer Risk Reduction
The birth control pill has been proven to reduce the risk of ovarian cancer and may be recommended 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 ensure you weigh the risks.
Preventative (Prophylactic) Surgery
The most effective, and controversial, risk-reducing strategies are in the form of prophylactic (preventative) surgeries. For women this could mean removal of both breasts (double-mastectomy) and related 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 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.
In addition to medical recommendations, lifestyle changes have been proven effective in reducing cancer risk.