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) 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. 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) 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.
