Article
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations.
Breast cancer research and treatment - 1 Jan 2013
Prokofyeva Darya, Bogdanova Natalia, Dubrowinskaja Natalia, Bermisheva Marina, Takhirova Zalina, Antonenkova Natalia, Turmanov Nurzhan, Datsyuk Ihor, Gantsev Shamil, Christiansen Hans, Park-Simon Tjoung-Won, Hillemanns Peter, Khusnutdinova Elza, Dörk Thilo
Abstract excerpt
Bloom's syndrome is a rare autosomal recessive chromosomal instability disorder with a high incidence of various types of neoplasia, including breast cancer. Whether monoallelic BLM mutations predispose to breast cancer has been a long-standing question. A nonsense mutation, p.Q548X, has recently been associated with an increased risk for breast cancer in a Russian case-control study. In the present work, we have...
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