While Sokolenko et al. and Prokofyeva et al. identified that truncating mutation of BLM (c.1642 C>T, p.Gln548Ter) conferred a 6-fold increased risk of breast cancer, such association was not observed by Kluzniak et al. in the large cohort of samples obtained from Poland (Sokolenko et al., 2012; Prokofyeva et al., 2013; Kluzniak et al., 2019). The gene discussed is BLM; the disease is breast cancer.