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.
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
- Clinical breast exams every 6-12 months beginning at age 30.
- Annual mammography (consider 3D mammography if available) and breast MRI with contrast beginning at age 30.
- Women should have a discussion with their doctors about of the advantages and disadvantages of risk-reducing mastectomy.
Ovarian cancer prevention
- The National Comprehensive Cancer Network (NCCN) guidelines recommend that ovarian cancer risk be managed based on family history.
- Some experts recommend risk-reducing salpingo-oophorectomy after age 50 to their patients with PALB2 mutations.
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. 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.
Validating a Blood Test for Early Ovarian Cancer Detection in High-risk Women and Families: MicroRNA Detection Study (MiDE). The goal of MiDe is to develop a clinical diagnostic test to detect early onset ovarian cancer, as currently, there are no good screening or early detection tests available. Participants can be expected to provide up to 4 tubes of blood every 6 months for up to 5 years. We can collect these samples through mobile phlebotomy all around the US.
- 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.
- NCT03250078: A Pancreatic Cancer Screening Study in Hereditary High Risk Individuals. The main goal of this study is to screen and detect pancreatic cancer and precursor lesions in individuals with a strong family history or genetic predisposition to pancreatic cancer. MRI and Magnetic cholangiopancreatography (MRI/MRCP) will be utilized to screen for early stage pancreatic lesions.
- 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.
- NCT02478892: Preliminary Evaluation of Screening for Pancreatic Cancer in Patients with an Inherited Genetic Risk Due to a BRCA1, BRCA2, PALB2 or ATM Mutation. This study uses MRI and endoscopic ultrasound to screen for pancreatic cancer in people with a BRCA1/2, PALB2 or ATM mutation.
Visit our Research Search and Enroll Tool to find additional prevention and screening studies.