Risk management for people with inherited PALB2 mutations

The National Comprehensive Cancer Network (NCCN) provides risk management guidelines for people with PALB2 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 to 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. Note that when we use "men" and "women" we are referring to the sex you were assigned at birth.

People with a PALB2 mutation may also qualify for clinical trials looking for more effective screening or prevention for cancer.

Breast cancer screening and prevention

• Breast exam by doctor every 6-12 months beginning at age 30.
• Yearly mammogram and breast MRI with contrast beginning at age 30.
• 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 drugs that block estrogen can reduce breast cancer risk in high-risk women. More research is needed to prove that they are effective for women with PALB2 mutations.

Ovarian cancer screening and prevention

Risk reducing surgery: 

• Have a discussion with your doctor about the risks and benefits and consider surgery to remove your ovaries and fallopian tubes after age 45.
  • 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. Be aware of symptoms of primary peritoneal cancer and report any symptoms to your doctor.
• 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. 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.

Pancreatic cancer screening for people with a family history

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.  

Pancreatic cancer screening for people with a PALB2 mutation is only recommended for people with a family history of pancreatic cancer.

• For PALB2 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 done at a facility with experience in screening high-risk patients for pancreatic cancer. 

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. 

Other cancers

There has not been enough research to show a benefit from screening and prevention for other cancers in people who have a PALB2 mutation. For this reason, experts recommend managing these risks based on family history of cancer. Cancer screening and prevention research studies may be available for people with PALB2 mutations.