Cancer Treatment Today

PALB2, a gene that has previously been implicated in increased risk of pancreatic and breast cancer, has recently received media attention. The name of the PALB2 gene stands for “Partner and Localizer of BRCA2.” PALB2 works closely with BRCA2 and other genes inside the cells of the body to repair damaged DNA.. A new study released in the New England Journal of Medicine1 estimates the lifetime risk for breast cancer for women with PALB2 mutations, information that may help guide decisions about cancer risk management in people who test positive for this mutation. Mutations in the PALB2 gene are rare—the exact frequency is not yet known. Studies to establish the frequency of PALB2 mutations are ongoing.  Based on these findings, the researchers estimated women with a PALB2 mutation have:

a 14% risk of breast cancer by age 50, and
a 33% risk of breast cancer by age 70 for PALB2 mutation carriers without a strong family history of breast cancer, and
a 58% risk of breast cancer by age 70 for PALB2 mutation carriers with 2 or more first-degree relatives (i.e. parent, sibling, or child) with breast cancer. Genetic testing for PALB2 mutations is available from a number of laboratories. However, there are currently no national guidelines for the testing of individuals for PALB2 mutations or for management of cancer risk in patients with PALB2 mutations.

CLINICAL / MEDICAL REFERENCES

1. Antoniou, A.C., et al., “Breast-Cancer Risk in Families with Mutations in PALB2.” New England Journal of Medicine, Volume 371, No. 6: August 7, 2014, p. 497-506.
2. Evans, M.K., and Longo, D.L., “PALB2 Mutations and Breast-Cancer Risk.” New England Journal of Medicine, Volume 371, No. 6: August 7, 2014, p. 566-568.

1. 3 Antoniou AC, Casadei S, Heikkinen T, et al. Breast-cancer risk in families with mutations in PALB2. N Engl J Med. 2014 Aug 7;371(6):497-506. 4 Walsh T, Casadei