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. 

Breast cancer screening and prevention

• Clinical breast exams every 6-12 months beginning at age 30.
• Annual mammography with consideration (consider 3D mammography if available) and breast MRI with contrast beginning at age 30
• Clinical breast exams every 6-12 months
• 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. 
• Consider enrolling in a research study looking at other methods to screen for cancer, or agents to lower risk. 

Ovarian cancer prevention 

• The National Comprehensive Cancer Network (NCCN) guidelines recommend that ovarian cancer risk be managed based on family history. In the absence of a family history of ovarian cancer, NCCN does not recommend risk-reducing salpingo-oophorectomy (removal of the ovaries and fallopian tubes).
• Consider enrolling in a research study looking at methods to screen for cancer, or agents to lower risk. 

Pancreatic cancer screening for people with a family history

• For PALB2 mutations 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 mutation carriers 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. 

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.