The frequency of the BLM p.Q548X (c.1642C>T) mutation in breast cancer patients from Russia is no higher than in the general population

摘要

Recently Prokofyeva and colleagues reported that the Q548X mutation in the BLM gene is associated with breast cancer in Slavic populations [1]. This publication has confirmed the results of the prior study [2]. However, in both studies selected groups of breast cancer patients were analyzed. The studies included patients with clinical indicators for breast cancer predisposition such as family history, bilaterality, or age of disease onset <50 years. As a result, the potential utility of the BLM Q548X mutation as a breast cancer predisposition marker in unselected breast cancer patients and in the general population remains unclear.