PALB2 Gene

February 13, 2026

This page was reviewed under our medical and editorial policy by Heather Hampel, M.S., C.G.C., professor, Department of Medical Oncology & Therapeutics Research, City of Hope^® Cancer Center Duarte.

All men and women have a gene known as PALB2. PALB2 stands for partner and localizer of BRCA2, another gene found within the body.

When functioning normally, both genes work together to repair damaged DNA strands and to stop tumors from growing in the body (tumor suppression). DNA is the molecule inside cells that carries instructions for development and functioning of an organism.

This guide is designed to help patients better understand the PALB2 gene and how it influences cancer risk.

What Is a PALB2 Mutation?

A PALB2 mutation is a harmful change in the DNA sequence, or the order of chemical building blocks inside this gene. When these changes occur, they may change the way cells develop and increase a patient’s risk for developing cancer.

Mutations in PALB2 are inherited from parents, meaning they are passed down through DNA.

PALB2 mutations are a less common cause of hereditary breast cancer than BRCA1 and BRCA2.

PALB2 Gene Mutation and Breast Cancer

Mutations in the PALB2 gene cause an increased breast cancer risk. Researchers estimate that people with PALB2 mutations have a four times greater risk for developing breast cancer compared to those without the mutation, according to the National Cancer Institute. It has been detected in just under 1% of breast cancers tested in studies.

More recent data analyzed across 21 countries show that the risk for female breast cancer in those with the PALB2 mutation may be even higher, noting a 53% risk by the age of 80 (7-fold higher than those without the mutation), according to a 2020 study in the Journal of Clinical Oncology. The researchers also estimate that men with the PALB2 mutation have a 1% risk for male breast cancer.

People who have the PALB2 mutation need high risk cancer screening. Doctors may suggest beginning annual mammograms and magnetic resonance imaging (breast MRI with and without contrast) at age 30. Women with PALB2 mutations may be offered medications to help reduce their risk for breast cancer.

In addition, some women at this level of breast cancer risk consider risk-reducing mastectomies. These are personal decisions that will be discussed with a team of physicians to help patients weigh the risks, benefits, and limitations of these surgeries. It is always good to consider general breast cancer risk reduction strategies, including:

• Regular physical activity
• Maintaining a healthy diet and weight
• Eliminating or reducing alcohol use

PALB2 Gene Mutation and Other Cancers

Mutations in the PALB2 gene are also linked to an increased risk for developing other cancers. These include the following cancers.

Ovarian cancer: Genetic mutations in PALB2 are a known risk factor for developing ovarian cancer. Women with a PALB2 mutation have a 3% to 5% risk for developing ovarian cancer by age 80 (nearly three times higher than the general population). At this level of risk, patients may consider risk-reducing salpingo-oophorectomy (surgery to remove the ovaries and fallopian tubes) starting at age 45-50.

Pancreatic cancer: People with a PALB2 mutation have a 2% to 5% risk for developing pancreatic cancer. Individuals with PALB2 mutations are recommended to have pancreatic cancer surveillance if they have a close relative with pancreatic cancer. This includes annual endoscopic ultrasound and/or contrast enhanced MRI/magnetic resonance cholangiopancreatography (MRCP) beginning at age 50.

PALB2 mutations may also cause an increased risk for prostate cancer, but more research is needed to confirm this. Prostate cancer screening can be considered starting at age 40 for men with PALB2 mutations.

Patients who have already been diagnosed with cancer may benefit from testing, as the results may help doctors create a personalized treatment plan. Their family members may also wish to speak to a genetic counselor and consider PALB2 genetic testing, as this may help them better understand their own cancer risk.

Who Is a Candidate for PALB2 Genetic Testing?

A thorough risk assessment with a doctor is a valuable tool to find out if patients may benefit from genetic testing. It is important to go over the pros and cons of genetic testing with a genetic counselor beforehand. This allows patients to make an informed choice, understand what the information may or may not provide, and feel empowered with the test results.

People who are concerned about their cancer risk should speak with their doctor about whether PALB2 testing is appropriate for them. It is generally recommended for the following groups:

• Patients already diagnosed with breast cancer, particularly at a younger age
• Patients with triple-negative breast cancer or those diagnosed with a second breast cancer
• Patients with a family history of a PALB2 mutation
• Patients with a family history of pancreatic, ovarian or metastatic prostate cancer, particularly if they were diagnosed at a younger age

Cost of PALB2 Gene Testing

In most cases, a multi-gene panel test will be ordered. This type of test checks several genes at the same time and may be useful when a family has no known gene mutations. Some of the genes that are typically included in multi-gene panel tests for diffuse breast cancer are BRCA1, BRCA2, ATM, CHEK2, CDH1, PALB2, and PTEN.

Multi-gene panel testing for PALB2 mutations may be covered by health insurance if the patient meets testing criteria and it is recommended by a patient’s doctor. However, patients should contact their insurance provider to find out more.

As an alternative, patients may wish to pay out of pocket for PALB2 testing. Self-pay costs vary, depending on the laboratory, but range from $250 to $400.

PALB2 Test Results

After PALB2 testing, results may be ready in about two to three weeks, but this may vary. Once test results are ready, they are discussed with the patient.

A positive test: This means a PALB2 mutation (harmful genetic change) linked to an increased risk of breast, ovarian, pancreatic, and prostate cancers was found. For patients testing positive, additional screening, risk-reducing surgeries, and preventive lifestyle changes may be recommended.

A negative test: This result is especially helpful in families with a known PALB2 genetic mutation because it means the person tested did not inherit it. This result is known as a true negative. It means the person’s cancer risk is about the same as that of the general population. When a person has a strong family history of breast cancer but has no associated gene mutation, the negative result is known as an uninformative negative. This means a genetic mutation may be still involved, but it was not detected by current technology. Doctors may recommend further testing or check-ups as new technology becomes available.

An inconclusive result: A genetic change was found, but there is not yet enough information to know whether it increases cancer risk. This type of genetic change is referred to as a variant of uncertain significance (VUS). People with this finding are urged to stay in touch with their provider in case new information becomes available about their variant over time.

Not all gene variations, or mutations, have been studied. Meeting with a genetic counselor to go over the pros and cons of testing may help patients understand the limitations of each test.

Some patients undergo PALB2 testing after they have already received a cancer diagnosis. If the results are positive, this may help patients and doctors determine a personalized treatment plan.