{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T03:34:24Z","timestamp":1770521664880,"version":"3.49.0"},"reference-count":42,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,4,23]],"date-time":"2004-04-23T00:00:00Z","timestamp":1082678400000},"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":[[2004,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteosarcoma (OS) is the most prevalent malignant tumor among cases of Rothmund\u2010Thomson syndrome (RTS) with germline mutations of the <jats:italic>RECQL4<\/jats:italic> gene, a member of the RecQ helicase family. We investigated the involvement of the <jats:italic>RECQL4<\/jats:italic> gene in the development of OS unrelated to RTS. <jats:italic>RECQL4<\/jats:italic> mRNA was detected in 9 of 9 OS cell lines by Northern blotting and 26 of 26 OS tumors by RT\u2010PCR. Direct sequencing of the entire coding region along with flanking splice junctions and 13 small (&lt;100 bp) introns in 71 OS tumors revealed 2 sites with a single\u2010base change causing an amino acid change (G1814A for R355Q and C2474T for P441S) and one site with a 6 bp inframe deletion (4837\u201042delTGCACC for CT857\u20108del). Identical genotypes were found in corresponding normal tissues in all cases, and the frequency of each allele was not significantly different between OS and control populations. Our data indicate that the <jats:italic>RECQL4<\/jats:italic> gene is not a frequent target for somatic mutations in sporadic OS unrelated to RTS. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ijc.20269","type":"journal-article","created":{"date-parts":[[2004,4,23]],"date-time":"2004-04-23T16:54:05Z","timestamp":1082739245000},"page":"367-372","source":"Crossref","is-referenced-by-count":32,"title":["Mutation analysis of the <i>RECQL4<\/i> gene in sporadic 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