Women with a PALB2 mutation face a higher risk of breast cancer and might be at an increased risk of death from breast cancer compared with non-carriers, a new study published online in the journal The Lancet Oncology has shown.

For the study, researchers invited 17,900 women with invasive breast cancer to participate between 1996 and 2012.

Of those, 12,529 were genotyped for two deleterious mutations in PALB2 (509_510delGA and 172_175delTTGT). Researchers also enrolled 4,702 women without cancer to participate in the control group.

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Researchers found that the PALB2 mutation was present in 0.93% (95% CI: 0.76-1.09) of the 12,529 patients and in 0.21% (95% CI: 0.08-0.34) of the 4,702 controls (OR = 4.39; 95% CI: 2.30-8.37; < 0.0001).

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Results showed that the 10-year survival was 48.0% (95% CI: 36.5-63.2) for women with breast cancer and aPALB2 mutation versus 74% (95% CI: 73.5-75.8) for women with breast cancer without a PALB2 mutation (adjusted HR for death = 2.27; 95% CI: 1.64-3.15; P < 0.0001).

The authors conclude that increased surveillance should be offered to women without cancer who carry aPALB2 mutation.


  1. Cybulski C, Kluzniak W, Huzarski T, et al. Clinical outcomes in women with breast cancer and a PALB2 mutation: a prospective cohort analysis. Lancet Oncol. 2015. [Epub ahead of print]. doi: 10.1016/S1470-2045(15)70142-7.