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Genetic testing can find mutations in a gene called PALB2, which is linked to increased risk for cancer.
Scientists discovered the PALB2 (Partner and Localizer of BRCA2) gene in 2006 while they were looking for genes that work with BRCA2 to repair damaged cellular DNA. Although “PALB2” includes a reference to BRCA2, the two genes are different; people with PALB2 mutations do not necessarily have BRCA2 mutations. Many genetic test panels include PALB2 mutations.
Inherited mutations in PALB2 are associated with increased lifetime risk of cancer including:
Ongoing research may identify other cancer risk, such as male breast cancer and ovarian cancer, in people with inherited PALB2 mutations.
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 research studies, may be available to manage risk. 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.
Inheriting two mutated copies of PALB2 (one from each parent) causes a rare blood disease known as Fanconi anemia in children.