Risk management for people with inherited BRCA1 mutations

The National Comprehensive Cancer Network (NCCN) provides guidelines for people with a BRCA1 mutation to manage their cancer risk. We recommend that you speak with a genetics expert who can look at your personal and family history of cancer and can help you decide on a plan for managing your risk. You can learn more about risk-management options in our section on Screening and Risk Reduction by Cancer Type. NCCN recommends that people with an inherited BRCA1 mutation receive education on the signs and symptoms of related cancers. Note that when we use "men" and "women" we are referring to the sex you were assigned at birth.

• 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 your breasts beginning at age 18.
• Breast exam by doctor 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 beginning 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 benefits and risks of double mastectomy.
  • Risk-reducing mastectomy can lower the risk for breast cancer by about 90%. Despite this, mastectomy may not increase your overall survival.
  • Even after double mastectomy, some breast tissue is left over, and therefore some breast cancer risk remains after surgery. 
• Tamoxifen and other estrogen-blocking drugs may reduce breast cancer risk for women with a BRCA1 mutation, but more research is needed to prove this.

Risk management for male breast cancer

• Learn how to do a breast self-exam and be aware of changes in your breast beginning at age 35.
• Breast exam by doctor yearly beginning at age 35.
• Consider yearly mammogram 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 reducing surgery

• Risk-reducing removal of ovaries and fallopian tubes (RRSO) is recommended between age 35 and 40 and after you are done having children.
  • Research studies have shown that risk-reducing salpingo-oophorectomy can improve your overall survival. 
  • Have a discussion with your doctor about the effects of early menopause and options for managing them.
  • After RRSO, a very small risk remains (about 1-2 percent) for a related cancer known as primary peritoneal cancer (PPC). Given how rare this cancer is, experts do not recommend screening for PPC after RRSO.
• Have a discussion with your doctor about the risks and benefits of removing your uterus (hysterectomy) at the time of RRSO. The discussion should include the risks and benefits of hysterectomy, including the following: 
  • For people considering hormone replacement after surgery, the type of hormone replacement depends on whether or not you still have your uterus.
    • Leaving your uterus will mean that you still have some risk for uterine cancer. BRCA1 mutations have been linked to a slightly increased risk for a rare but aggressive type of uterine cancer. 
    • Estrogen-only hormone replacement does not appear to increase the risk for breast cancer. However, taking estrogen only without progesterone 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. 
  • If you have a medical history of fibroids or other medical issues involving the uterus or cervix you might want to consider a hysterectomy. 
• 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.

Medications to lower 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

• Symptom awareness: Become aware of ovarian and primary peritoneal cancer symptoms. Report to any of the following symptoms that persist for several weeks and are a change from normal to your doctor:
  • pelvic or abdominal pain
  • bloating or distended belly
  • difficulty eating
  • feeling full sooner than normal
  • increased urination or pressure to urinate 
• Routine ovarian cancer screening using transvaginal ultrasound and a CA-125 blood test has not shown benefit and is not recommended.

Guidelines for pancreatic cancer

There are two tests that are used to look for pancreatic cancer. 

• Contrast-enhanced magnetic resonance cholangiopancreatography (MRCP) is a special type of MRI imaging that looks closely at the pancreas, liver, gallbladder, bile duct and pancreatic duct to find abnormalities such as cancer.
• Endoscopic ultrasound (EUS) involves passing a tiny scope with an attached ultrasound probe down the esophagus to the stomach. This allows doctors to look closely at the pancreas.  

American Society for Gastrointestinal Endoscopy (ASGE)

In February 2022, the ASGE released new 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 recommend pancreatic cancer screening only for people 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. 
• Before undergoing screening, you should have a conversation with your doctor about the benefits, risks, costs and limitations of screening.
• Screening includes annual contrast-enhanced MRI/MRCP (magnetic resonance cholangiopancreatography) and/or EUS (endoscopic ultrasound). 
• Screening should be performed in a facility with experience in screening high-risk patients for pancreatic cancer. 

Guidelines for prostate cancer

• By age 40, you should have a conversation with your doctor about the potential benefits, risks, costs and limitations of screening for prostate cancer.
• If you choose to have screening, the guidelines recommend 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.

Other cancer screening and prevention

There has not been enough research to show a benefit from screening and prevention for other cancers in people who have a BRCA1 mutation. For this reason, experts recommend managing these risks based on your family history. Cancer screening and prevention research studies may be available.