Mutation in a BRCA2-Related Gene: Increased Risk of Breast Cancer

The study, published in NEJM, proposes enhanced surveillance in women with PALB2 mutations, similar to women harboring BRCA2 mutations.

Breast cancer risk increased by five to nine times in women who had mutations in a gene related to BRCA2, the PALB2 gene, investigators reported.

The magnitude of risk compared with the general population varied by age, ranging from five times greater among women older than 60 to nine times greater in women younger than 40, according to Marc Tischkowitz, MD, PhD, of Addenbrooke's Hospital in Cambridge, England, and colleagues.

The frequency of loss-of-function mutations in PALB2 (partner and localizer of BRCA2) in the total population of women remains to be determined, they concluded in an article published online in the New England Journal of Medicine.

"On the basis of our estimates of risk, women with loss-of-function mutations in PALB2 should be studied to determine whether enhanced surveillance for breast cancer, in line with that offered to women with mutations in BRCA2, can influence outcomes," they concluded. "Risk-reducing surgical options could also be tested."

Read the report here:

Source: Medscape