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.
If you are a person with a PALB2 mutation, you can find peer support through the following resources:
- FORCE blog: Read stories submitted by people with PALB2 mutations
- Video: FORCE members with a PALB2 mutation
- FORCE's Peer Navigation Program will match you with a volunteer who shares your mutation and situation and provide you with a free resource guide.
- Register for the FORCE Message Boards to connect with others who share your situation. Once you register, you can post on the Share Your Mutation board to connect with other people who carry a PALB2 mutation and the Diagnosed With Cancer board to connect with other people who have been diagnosed.
- Contact the FORCE impact leaders in your area to link to local support groups and other resources.
- Attend a virtual support meeting in your area.
The following screening and prevention studies are open to people with a PALB2 mutation.
Prostate cancer
- NCT03805919: Men at High Genetic Risk for Prostate Cancer. This is a prostate cancer screening study using MRI in high risk men. This study is open to men with PALB2 and other mutations.
Pancreatic cancer
- NCT02206360: Pancreatic Cancer Early Detection Program. This pancreatic cancer screening study uses esopheal ultrasound to screen for pancreatic cancer in high risk people. The study is open to people with an PALB2 mutation or other mutation linked to increased cancer risk who also have a family history of pancreatic cancer.
- NCT03568630: Blood Markers of Early Pancreas Cancer. This pancreatic cancer study involves blood samples over time to look for biomarkers of pancreatic cancer in high risk people. The study is open to people with a PALB2 mutation or other mutation linked to increased cancer risk.
- NCT03693378: A Study of IMMray™ PanCan-d Test for Early Detection of Pancreatic Cancer in High-risk Groups. This pancreatic cancer screening study uses an experimental blood test to screen for pancreatic cancer in high risk people. The study is open to people with a PALB2 mutation or other mutation linked to increased cancer risk who also have a family history of pancreatic cancer.
Visit our Research Search and Enroll Tool to find additional prevention and screening studies.