In exploratory analyses in BRCA1 or BRCA2 mutation carriers, there was little evidence of association of E354Q with breast cancer risk (BRCA1:OR 1.00, 95% CI:0.96–1.05, p = 0.98; BRCA2:OR:1.04, 95% CI:0.98–1.11, p = 0.16). The gene discussed is BRCA2; the disease is breast carcinoma.