What are the screening and prevention recommendations for people with a BRCA1 and BRCA2 variants?

The goal of cancer screening is to find a cancer before there are any symptoms. Treatment is likely to be the most effective when cancer is found early. Your genetic counsellor will discuss current cancer screening advice based on your family history.

General screening guidelines for people with HBOC are provided below. People who have already had a cancer will make a plan for any necessary screening with their cancer care providers. Your genetic counsellor can help you figure out what your options are.

Females with Breast Tissue

• Awareness of what is normal for your breasts to look and feel like
• Annual breast exam by an experienced health professional
• Annual breast MRI from ages 25 to 70
• Annual mammogram from age 30.

Males with Breast Tissue

• Annual breast exam by an experienced health professional beginning at age 35
• Prostate cancer screening from at age 45; annual PSA blood test and digital rectal exam

Screening should not be done for ovarian cancer as current screening tools have been proven not to work. Please see below for risk management options.

Screening for other cancers based on family history and current guidelines.

Your screening may be different depending on your family history.

Surgery to remove breast tissue:

• Women can remove both their breasts to lower the risk for breast cancer. This is called risk- reducing or prophylactic mastectomy (breast removal) and reduces the risk of breast cancer by over 90%.
• Breast reconstruction is available if desired and covered by the provincial health care plan.
• Having surgery to reduce cancer risk is a very personal decision. Some people choose to have surgery and some do not. It is important to take the time you need to make the decision that is right for you.
• You may want to discuss this option with your doctor. You may also find meeting with a specialist who is an expert in this area is helpful in making an informed choice.

Medication to reduce breast cancer risk:

• Medication given to people who have cancer can sometimes be used to lower the chance for people to develop cancer in the first place. Risk-reducing medication such as tamoxifen, raloxifene, anastrozole and exemestane, can reduce risk of developing a hormone-receptor positive breast cancer by about 50%.
• The decision to use risk reducing medication requires discussion about the benefits and the risk of side effects from the medication.

• The birth control pill reduces the risk of ovarian and endometrial cancer by 50% or more if used for at least 5 years. This benefit increases with length of use and lasts for at least 20 years after the pill is stopped. A decision to take birth control pills to prevent cancer requires a careful discussion about cancer risks, benefits and side effects.
• Removing ovaries and fallopian tubes is recommended for women with a pathogenic variant in a BRCA gene once they are finished having any children they wish to have and by age 35-40 (BRCA1) or by age 45 (BRCA2).  If surgery is performed before the age of natural menopause it may also reduce the risk of breast cancer. Hormone replacement therapy is available after surgery.
• Removing fallopian tubes: this may be an option for women to reduce their ovarian cancer risk while delaying entering menopause. Your genetic counsellor can provide more information.
• Having surgery to reduce cancer risk is a very personal decision. Some women choose to have surgery and some do not. It is important to take the time you need to make the decision that is right for you.
• You may want to discuss this option with your doctor. You may also find meeting with a specialist who is an expert in this area is helpful in making an informed choice.

Women should also be aware of possible signs of ovarian cancer. Ovarian cancer may not cause any symptoms in its early stages. When symptoms do start, they are often vague and easily mistaken for more common illnesses.

Ovarian cancer may cause

• Swelling or bloating of the abdomen
• Pelvic discomfort or heaviness
• Pain in the back or abdomen
• Fatigue
• Gas
• Nausea
• Indigestion
• Feeling full after a light meal
• Change in bowel habits
• Emptying bladder often
• Weight loss or weight gain
• Pain with intercourse

• People with a higher chance of pancreatic cancer should not smoke.
• Any new and sudden onset of diabetes should be investigated by your healthcare provider.

People who carry a pathogenic variant in a BRCA gene and who have a close family member with pancreatic cancer (siblings, children and/or parents) can be referred by their doctors to a specialist to discuss endoscopic ultrasound and MRI screening starting at age 50, or 10 years before the youngest diagnosis of pancreatic cancer in the family.

Knowing your own body is important for any person. Recognizing symptoms and getting regular checkups may help to detect cancer early. Be aware of your body and know what is normal for you.

If you notice any unusual changes, tell your doctor about them. The sooner you report signs to your doctor, the sooner a problem can be dealt with.

Breast health starts with knowing your breasts, no matter what your age. Be aware of what is normal for your breasts, even if you are having regular screening tests. Some women and men find their own breast cancer through changes in the look and feel of their breasts. Many people find breast changes that turn out not to be cancer.

Genetic test results are very accurate. Current testing picks up approximately 98% off pathogenic variants in the BRCA1 and BRCA2 genes.

Detection rates will depend on a person’s family history, ethnicity, and other individual characteristics. Detection rates will also depend on the laboratory that offers the test. Within the Hereditary Cancer Program, most people offered genetic testing have a greater than 10% chance of receiving a positive test result.