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 men and women receive education on the signs and symptoms of cancers linked to a BRCA1 mutation.

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

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.
• 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.
• Consider enrolling in a research study looking at other ways to screen for breast cancer.

Risk reduction:

• 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. 
• Research on the benefit of tamoxifen and other estrogen-blocking medications to reduce breast cancer risk in women with BRCA1 mutations has been mixed.
• Consider enrolling in a research study looking at other agents to lower risk. 

Breast cancer risk management in men

• 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). 
   

Ovarian and fallopian tube 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. 
  • 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 BRCA1 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. 
• Consider enrolling in a research study looking at other agents to lower risk for ovarian cancer. 

Screening:

• 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. 
• Consider enrolling in a research study looking at other ways to screen for ovarian and fallopian tube cancer. 

Guidelines for pancreatic cancer

• For people witn an inherited BRCA1 mutation who have 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 an experienced facility, ideally under research conditions. 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).
• Consider enrolling in a research study looking at methods to screen for cancer, or agents to lower risk. 

Guidelines for prostate cancer

• Consider beginning prostate cancer screening at age 40 with a digital rectal exam and Prostate Specific Antigen (PSA) test. 
• Consider enrolling in a research study looking at other ways to screen for prostate cancer. 

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.