PALB2

Genetic testing can find mutations in a gene called PALB2, which is linked to increased risk for cancer. 

People with a mutation in PALB2 are at increased risk for breast cancer (up to 58% lifetime risk for women), and possibly pancreatic, ovarian and other cancers.  Research to determine the exact cancer risks is ongoing.

Ongoing research may identify other cancer risk, such as male breast cancer, ovarian cancer, and pancreatic cancer in people with inherited PALB2 mutations. The PROMPT Study is a research registry enrolling people who have had panel testing in order to learn more about cancer risks associated with gene mutations like PALB2. 

National guidelines recommend that women with PALB2 mutations undergo increased screening for breast cancer beginning at age 30, and consider risk-reducing mastectomy. Other options, including participating in detection and prevention research studies, may be available to manage risk. 

Children who inherit two mutated copies of PALB2 (one from each parent) have a rare and serious blood disease known as Fanconi anemia.

If you have tested positive for a PALB2 mutation, we recommend consulting with a genetics expert who can assess your personal and family history of cancer, and can help you to determine the best risk-management plan.

Updated 12/26/2017