High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.

doi:10.1002/ijc.26342

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Article

High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia.

International journal of cancer - 15 Jun 2012

Sokolenko Anna P, Iyevleva Aglaya G, Preobrazhenskaya Elena V, Mitiushkina Nathalia V, Abysheva Svetlana N, Suspitsin Evgeny N, Kuligina Ekatherina Sh, Gorodnova Tatiana V, Pfeifer Werner, Togo Alexandr V, Turkevich Elena A, Ivantsov Alexandr O, Voskresenskiy Dmitry V, Dolmatov Georgy D, Bit-Sava Elena M, Matsko Dmitry E, Semiglazov Vladimir F, Fichtner Iduna, Larionov Alexey A, Kuznetsov Sergey G, Antoniou Antonis C, Imyanitov Evgeny N

Abstract excerpt

The BLM gene belongs to the RecQ helicase family and has been implicated in the maintenance of genomic stability. Its homozygous germline inactivation causes Bloom syndrome, a severe genetic disorder characterized by growth retardation, impaired fertility and highly elevated cancer risk. We hypothesized that BLM is a candidate gene for breast cancer (BC) predisposition. Sequencing of its entire coding region in...

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PMID: 21815139
DOI: 10.1002/ijc.26342

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