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PALB2

This page was reviewed under our medical and editorial policy by

Daniel Liu, MD, Plastic and Reconstructive Surgeon, CTCA Chicago.

This page was updated on December 2, 2022.

The American Cancer Society estimates that 5 percent to 10 percent of breast cancers are hereditary. Hereditary cancer is one caused by a gene mutation, or change, that comes from one or both parents. Researchers have identified a number of genetic changes that may increase a person’s lifetime risk of having breast cancer.

Having a genetic risk factor means patients are more likely to be diagnosed at a younger age and have a higher risk of developing cancer in both breasts. Some gene mutations may also increase a person’s risk of other cancers.

Although the BRCA1 and BRCA2 genes are the most common genetic mutations for hereditary breast cancer, there are other gene mutations that may also increase risk, including a gene called PALB2. Here’s what patients need to know about the link between PALB2 and breast cancer.

This guide will answer several common questions about PALB2:

What is PALB2?

PALB2 (partner and localizer of BRCA2) is a specific type of genetic mutation. Although PALB2 normally helps prevent cancer, when it mutates, it no longer works correctly, which means people with a PALB2 mutation have a higher risk of breast cancer. This gene mutation has been found in about 1 percent of hereditary breast cancers in those who undergo genetic testing, according to the National Cancer Institute. It’s also been linked to hereditary pancreatic cancer.

It’s estimated that patients, both male and female, who test positive for the PALB2 mutation are two to four times more likely to develop breast cancer. Still, this gene mutation is rare. Patients with the mutation and a family history of the disease will also have a higher lifetime risk. Some research also shows that PALB2 breast cancers tend to be more aggressive types of the disease. However, this gene was only recently discovered, so more research needs to be done to fully understand its connection to breast cancer.

Is PALB2 the same as BRCA2?

PALB2 and BRCA2 aren’t the same gene, but they work together to repair DNA when functioning normally. PALB2 is responsible for a protein that may inhibit tumor growth. PALB2 helps to suppress tumor development by creating a link with both BRCA1 and BRCA2. If a mutation occurs in either PALB2 or BRCA2, it may affect a person’s breast cancer risk.

Who should have PALB2 gene testing?

Genetic testing for breast cancer isn’t recommended for everyone. Genetic testing, including testing for PALB2, is recommended for patients with a medical or family history that indicates they may have an inherited gene mutation. According to the American Society of Clinical Oncology, testing is generally suggested for these patient groups:

  • Women 60 years or younger who have a diagnosis of triple-negative breast cancer 
  • People with a family member who has a known genetic mutation, including BRCA2
  • Someone with a previous breast cancer diagnosis who is either under the age of 45 or between the ages of 46 to 50 with other risk factors
  • Men with a previous diagnosis of breast cancer or high-grade prostate cancer 
  • Women who’ve been diagnosed with both breast cancer and ovarian cancer 

Patients who are unsure whether genetic testing is right for them should talk to their doctor to learn about the benefits and risks of testing.

What happens if I test positive for PALB2 gene mutation?

If a person tests positive for the PALB2 gene mutation, his or her cancer care team will create a personalized screening plan, which may include more frequent screening because. They’ll also provide more detail about potential risk-reduction options, such as surgery. and patients will be able to meet with genetic counselors to learn more about what the mutation means for their health.

Patients with a genetic mutation should know that the test results mean their children may also have an increased risk of developing cancer in the future. Although it may be hard to talk about genetic risks and cancer, open, clear and honest communication is often an important way for parents to let their children know about their own genetic risks.

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