Risk management for people with inherited BRCA2 mutations
The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for men and women with BRCA2 mutations. We recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you determine the best risk management plan. You can learn more about risk management options in our section on Screening and Risk Reduction by Cancer Type. In addition to the screening outlined below, NCCN recommends that men and women receive education on the signs and symptoms of cancers linked to a BRCA2 mutation.
- Breast cancer in women
- Breast cancer in men
- Ovarian and fallopian tube cancer
- Pancreatic cancer
- Prostate cancer
- Other cancers
People with a BRCA2 mutation may also qualify for clinical trials looking for more effective screening or prevention for cancer.
- Learn to be aware of changes in breasts beginning at age 18.
- Clinical breast exam every 6-12 months beginning at age 25.
- Annual breast MRI with contrast (or mammogram if MRI is unavailable) beginning at age 25 and continuing until age 75.
- Annual mammogram at age 30 until age 75 (consider 3D mammography, if available).
- Screening after age 75 should be considered on an individual basis.
- Women should have a discussion with their doctors about of the advantages and disadvantages of risk-reducing mastectomy.
- Research has shown that risk-reducing mastectomy can effectively lower the risk for breast cancer in high risk women by about 90%.
- Despite this, mastectomy has not been shown to improve overall survival for high risk women. Even after mastectomies, some breast tissue-and therefore some breast cancer risk remains.
- Women should have a conversation with their doctor about the possible benefits of tamoxifen or other estrogen-blocking medications to reduce breast cancer risk in women with BRCA2 mutations.
- Breast self-exam training and education beginning at age 35.
- Clinical breast exam every 12 months beginning at age 35.
- Consider annual mammogram in men with gynecomastia beginning at age 50 or 10 years younger then the earliest case of male breast cancer in the family (whichever comes first).
- Risk-reducing removal of ovaries and fallopian tubes, also known as salpingo-oophorectomy is recommended between age 40 and 45 and upon completion of childbearing.
- Women should have a discussion with their doctors about whether or not to remove their uterus (hysterectomy). Factors that may affect this decision include risk for uterine cancer, decisions about hormone replacement after surgery and medical history of fibroids or other medical issues.
- Women should have a discussion with their doctors about the effects of early menopause and options for managing them.
- Removal of the fallopian tubes only (salpingectomy) is being studied as an option for lowering risk in high-risk women who are not ready to remove their ovaries. Studies on the benefit of salpingectomy have not been completed, and at this time, it is not known if salpingectomy lowers the risk for ovarian cancer in high risk women. Consider enrolling in a research study looking at this procedure to lower cancer risk.
- Oral contraceptives (birth control pills) have been shown to lower the risk for ovarian cancer in women with BRCA2 mutations. Research on the affect of oral contraceptives on breast cancer risk has been mixed. Women should have a discussion with their doctors about the benefits and risks of oral contraceptives for lowering ovarian cancer risk.
- Routine ovarian cancer screening using transvaginal ultrasound and a CA-125 blood test has not shown benefit. However, some doctors still recommend screening, starting at age 30-35.
- Women should be aware of the symptoms of ovarian cancer and report abnormalities to their doctors.
- For BRCA2 mutation carriers with a first- or second- degree relative with pancreatic cancer consider screening beginning at age 50 or 10 years younger than the age of diagnosis of the relative.
- For people who choose pancreatic cancer screening, NCCN recommends that the screening be performed in a facility with experience in screening high-risk patients for pancreatic cancer. Before undergoing screening, people should have a conversation with their doctor about the potential benefits, risks, costs and limitations of screening.
- Consider annual screening with contrast-enhanced MRI/MRCP (magnetic resonance cholangiopancreatography) and/or EUS (endoscopic ultrasound).
- Begin prostate cancer screening at age 40 with an annual digital rectal exam and Prostate Specific Antigen (PSA) test.
NCCN does not include guidelines for melanoma screening for people with BRCA2 mutations. However, some experts recommend general melanoma risk management such as a yearly full-body skin exam, a yearly eye exam and avoiding too much sun exposure.
If you are a person with a BRCA2 mutation, you can find peer support through the following resources:
- FORCE blog: Read stories submitted by people with BRCA2 mutations
- Video: FORCE members with a BRCA2 mutation
- FORCE's Peer Navigation Program will match you with a volunteer who shares your mutation and situation and provide you with a free resource guide.
- Register for the FORCE Message Boards to connect with others who share your situation. Once you register, you can post on the Share Your Mutation board to connect with other people who carry a BRCA2 mutation and the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Contact the FORCE impact leaders in your area to link to local support groups and other resources.
- Attend a virtual support meeting in your area.
The following screening and prevention studies are open to people with a BRCA2 mutation.
- NCT01905046: Metformin Hydrochloride in Patients With Atypical Hyperplasia or In Situ Breast Cancer to Placebo in Decreasing Atypical Cells in Patients With Atypical Hyperplasia or in Situ Breast Cancer. This study is testing whether metformin, a drug used to treat diabetes, is able to get rid of atypia (early changes that are thought to be a marker of breast cancer risk) in women at increased risk.
- NCT04794322: Developing a Test for the Detection of Ovarian Cancer. The study aims to develop a test for early detection of ovarian cancer using DNA from a growth involving the ovary found in a washing of the uterus (womb), and proteins found in the blood. Participants will not receive the results of their test.
- Validating a Blood Test for Early Ovarian Cancer Detection in High-risk Women and Families: MicroRNA Detection Study (MiDE). The goal of MiDe is to develop a clinical diagnostic test to detect early onset ovarian cancer, as currently, there are no good screening or early detection tests available. Participants can be expected to provide up to 4 tubes of blood every 6 months for up to 5 years. We can collect these samples through mobile phlebotomy all around the US.
- NCT03805919: Men at High Genetic Risk for Prostate Cancer. This is a prostate cancer screening study using MRI in high risk men. This study is open to men with BRCA2 and other mutations.
- NCT03250078: A Pancreatic Cancer Screening Study in Hereditary High Risk Individuals. The main goal of this study is to screen and detect pancreatic cancer and precursor lesions in individuals with a strong family history or genetic predisposition to pancreatic cancer. MRI and Magnetic cholangiopancreatography (MRI/MRCP) will be utilized to screen for early stage pancreatic lesions.
- NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esopheal ultrasound to screen for pancreatic cancer in high risk people. The study is open to people with an BRCA2 mutation or other mutation linked to increased cancer risk who also have a family history of pancreatic cancer.
- NCT03568630: Blood Markers of Early Pancreas Cancer. This pancreatic cancer study involves blood samples over time to look for biomarkers of pancreatic cancer in high risk people. The study is open to people with a BRCA2 mutation or other mutation linked to increased cancer risk.
- NCT02478892: Preliminary Evaluation of Screening for Pancreatic Cancer in Patients with an Inherited Genetic Risk Due to a BRCA1, BRCA2, PALB2 or ATM Mutation. This study uses MRI and endoscopic ultrasound to screen for pancreatic cancer in people with a BRCA1/2, PALB2 or ATM mutation.
- NCT04125914: Weight Management and Health Behavior Intervention in Lowering Cancer Risk for BRCA Positive and Lynch Syndrome Families. This trial studies how well weight management and health behavior intervention works in helping patients with hereditary breast and ovarian cancer and Lynch syndrome mutation carriers lose or maintain a healthy weight and lower their risk for cancer.
Visit our Research Search and Enroll Tool to find additional prevention and screening studies.