What Is the PALB2 Gene?
PALB2 is a gene that normally repairs DNA damage and prevents tumor growth. If you have a PALB2 mutation, the gene won’t perform these functions the way it should.
If You Carry PALB2, What Are You at Risk For?
- Breast cancer
- Pancreatic cancer
- Ovarian cancer
- Fanconi anemia (an inherited disease that causes decreased production of blood cells) (1)
How Does PALB2 Increase Your Risk for Cancer?
PALB2 is short for “partner and localizer of BRCA2” because it partners with another gene, called BRCA2 (breast cancer gene two).
More specifically, PALB2 provides instructions to make a protein that works with the BRCA protein to fix DNA damage and stop tumors from growing. (1,2)
Can You Be Tested for PALB2?
Yes, you can be tested for a PALB2 mutation.
Genetic testing usually involves providing a sample of blood or saliva, so that it can be analyzed in a lab.
Sometimes, this test will also look for other mutations, such as a BRCA mutation. (3)
Your doctor might recommend genetic testing if you have another family member with a PALB2 mutation, develop certain PALB2-related diseases, or have other risk factors.
You might want to talk to a genetic counselor who can assess your family history, tell you the pros and cons of the test, and help you interpret your results.
Why Is It Important to Know if You Carry PALB2?
If a family member has a PALB2 mutation, there’s a possibility you might, too. In fact, people who have the mutation have a fifty-fifty chance of passing it on to their children. Both men and women can carry and transfer these mutations. (4)
Knowing you have this mutation can help you determine your risk of developing certain cancers and diseases.
Women with a PALB2 mutation have between a 33 and 58 percent lifetime risk of developing breast cancer.
Although research has shown individuals with an abnormal PALB2 gene also have a higher risk of having male breast cancer, pancreatic cancer, ovarian cancer, and possibly other cancers, the exact degree of increase isn’t fully known. (5)
If you have a PALB2 mutation, you have a 25 percent greater chance of having a child with Fanconi anemia N (FA-N), but only if your partner also carries a PALB2 mutation. (4)
History of the PALB2 Gene: When Was It First Discovered?
A research team identified the PALB2 gene in 2006. The scientists first believed that an abnormal PALB2 gene doubled a woman’s risk of breast cancer. Later research revealed the risk was much higher. (6)
What Do You Do if You Test Positive for PALB2?
If you know you have a PALB2 mutation, you and your doctor can plan prevention strategies. You may also want to inform other family members of their risk.
An abnormal PALB2 gene doesn’t guarantee that you’ll develop cancer; it only puts you at an increased risk.
National guidelines recommend that if you do test positive for a PALB2 mutation, you should undergo increased screening for breast cancer, beginning at age 30.
You may also want to talk to your doctor about undergoing a risk-reducing mastectomy (removal of the breasts). Hormone therapies can also be used to reduce the risk of certain types of breast cancer. (5,7)
Your healthcare provider can explain your options in detail.