{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T22:52:21Z","timestamp":1789426341586,"version":"build-2803163510"},"reference-count":43,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2011,10,20]],"date-time":"2011-10-20T00:00:00Z","timestamp":1319068800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intl Journal of Cancer"],"published-print":{"date-parts":[[2012,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The <jats:italic>BLM<\/jats:italic> 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 <jats:italic>BLM<\/jats:italic> is a candidate gene for breast cancer (BC) predisposition. Sequencing of its entire coding region in 95 genetically enriched Russian BC patients identified two heterozygous carriers of the <jats:italic>c.1642 C<\/jats:italic>&gt;<jats:italic>T<\/jats:italic> (Q548X) mutation. The extended study revealed this allele in 17\/1,498 (1.1%) BC cases <jats:italic>vs.<\/jats:italic> 2\/1,093 (0.2%) healthy women (<jats:italic>p =<\/jats:italic> 0.004). There was a suggestion that <jats:italic>BLM<\/jats:italic> mutations were more common in patients reporting first\u2010degree family history of BC (6\/251 (2.4%) <jats:italic>vs.<\/jats:italic> 11\/1,247 (0.9%), <jats:italic>p =<\/jats:italic> 0.05), early\u2010onset cases (12\/762 (1.6%) <jats:italic>vs.<\/jats:italic> 5\/736 (0.7%), <jats:italic>p =<\/jats:italic> 0.14) and women with bilateral appearance of the disease (2\/122 (1.6%) <jats:italic>vs.<\/jats:italic> 15\/1376 (1.1%), <jats:italic>p<\/jats:italic> = 0.64). None of the <jats:italic>BLM<\/jats:italic>\u2010associated BC exhibited somatic loss of heterozygosity at the <jats:italic>BLM<\/jats:italic> gene locus. This study demonstrates that <jats:italic>BLM<\/jats:italic> Q548X allele is recurrent in Slavic subjects and may be associated with BC risk.<\/jats:p>","DOI":"10.1002\/ijc.26342","type":"journal-article","created":{"date-parts":[[2011,8,3]],"date-time":"2011-08-03T12:38:26Z","timestamp":1312375106000},"page":"2867-2873","source":"Crossref","is-referenced-by-count":52,"title":["High prevalence and breast cancer predisposing role of the BLM c.1642 C&gt;T (Q548X) mutation in Russia"],"prefix":"10.1002","volume":"130","author":[{"given":"Anna P.","family":"Sokolenko","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aglaya G.","family":"Iyevleva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena V.","family":"Preobrazhenskaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalia 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