Risk management for people with inherited BRCA1 mutations

The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for men and women with BRCA1 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 people with an inherited BRCA1 mutation receive education on the signs and symptoms of related cancers.

• Breast cancer in women
• Male breast cancer
• Ovarian and fallopian tube cancer  
• Pancreatic cancer
• Prostate cancer
• Other cancers

People with a BRCA1 mutation may also qualify for clinical trials looking for more effective screening or prevention for cancer.

Breast cancer risk management in women

Screening:

• Learn to be aware of changes in breasts beginning at age 18.
• Clinical breast exam every 6-12 months beginning at age 25.
• Yearly breast MRI with contrast (or mammogram if MRI is unavailable) beginning at age 25 and continuing until age 75.
• Yearly mammogram at age 30 until age 75.
• Screening after age 75 should be considered on an individual basis.

Risk reduction:

• Have a discussion with your doctor 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. 
• Research on the benefit of tamoxifen and other estrogen-blocking medications to reduce breast cancer risk in women with BRCA1 mutations has been mixed.

Risk management for male breast cancer

• Breast self-exam training and education beginning at age 35.
• Clinical breast exam yearly beginning at age 35.
• Consider yearly 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). 
   

Ovarian, fallopian tube and uterine cancer risk management

Risk reduction:

• Risk-reducing removal of ovaries and fallopian tubes, also known as salpingo-oophorectomy is recommended between age 35 and 40 and upon completion of childbearing.
  • Research studies have shown that risk-reducing salpingo-oophorectomy can improve overall survival in women with BRCA1 mutations. 
  • Have a discussion with your doctor about the effects of early menopause and options for managing them.
• Have a discussion with your doctor about whether or not to remove your uterus (hysterectomy). The discussion should include the risks and benefits of hysterectomy, including the following:
  • Women with a BRCA1 mutation have an increased risk for a rare form of aggressive uterine cancer, hysterectomy removes this risk. 
  • For people considering hormone replacement after surgery, the type of hormone replacement depends on the presence or absence of a uterus.
    • Estrogen-only hormone replacement does not appear to increase the risk for breast cancer. However, estrogen-only hormone replacement increases the risk for uterine cancer. 
    • Combination hormone replacement with estrogen and progesterone can protect against uterine cancer. Combination estrogen and progesterone hormone replacement are associated with a higher risk for breast cancer than estrogen alone. 
  • Any medical history of fibroids or other medical issues involving the uterus or cervix. 
• Removal of the fallopian tubes only (salpingectomy) is being studied as an option for lowering risk in people 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 people. 
  • 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 people with BRCA1 mutations. Research on the affect of oral contraceptives on breast cancer risk has been mixed. You should have a discussion with your doctor about the benefits and risks of oral contraceptives for lowering ovarian cancer risk. 

Screening:

• Routine ovarian cancer screening using transvaginal ultrasound and a CA-125 blood test has not shown benefit and is not recommended.
• You should be aware of the symptoms of ovarian cancer and report abnormalities to your doctor. 

Guidelines for pancreatic cancer

American Society for Gastrointestinal Endoscopy (ASGE)

In February 2022, the ASGE released updated guidelines on pancreatic cancer screening for people with a BRCA1 mutation. These guidelines recommended:

• All patients with a BRCA mutation regardless of family history of pancreatic cancer, should undergo annual  screening for pancreatic cancer with MRI/MRCP or EUS beginning at age 50 (or 10 years earlier than the earliest pancreatic cancer in the family).  

NCCN guidelines

NCCN guidelines still recommend pancreatic cancer screening for those with a family history of pancreatic cancer. NCCN guidelines include the following recommendations:

• For BRCA1 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).

Guidelines for prostate cancer

• Men should have a conversation with their doctor about the potential benefits, risks, costs and limitations of screening.
• For those individuals who choose screening, the guidelines recommend beginning screening at age 40 with an annual digital rectal exam and Prostate Specific Antigen (PSA) test. 

Melanoma screening

NCCN does not include guidelines for melanoma screening for people with BRCA1 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.