The frequency of PALB2 truncating variants in this cohort (1.1 %) is similar to other studies analysing high-risk breast cancer individuals (0.64–3.4 %, 1.35 % overall [3, 6–9, 26–41]) or triple-negative breast cancer (0.9–2.5 % [10, 42, 43]) but is the largest to include an analysis of the full gene in both cases and controls. The gene discussed is PALB2; the disease is breast carcinoma.