{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T04:56:18Z","timestamp":1791262578907,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,10,23]],"date-time":"2007-10-23T00:00:00Z","timestamp":1193097600000},"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":[[2008,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>NBS1<\/jats:italic> gene have been identified as disease\u2010causing mutations in patients with Nijmegen Breakage Syndrome (NBS), but their clinical impact on breast cancer susceptibility has remained uncertain. We determined the frequency of 2 NBS mutations, 657del5 and R215W, in two large series of breast cancer cases and controls from Northern Germany and from the Republic of Belarus. The 5\u2010bp\u2010deletion 657del5 was identified in 15\/1,588 cases (0.9%) from Belarus and in 1\/1,076 cases (0.1%) from Germany but in only 1\/1,014 population controls from Belarus and 0\/1017 German controls (<jats:italic>p<\/jats:italic> &lt; 0.01). The missense substitution R215W was observed in 9\/1,588 Byelorussian and 9\/1,076 German patients (0.6% and 0.8%, respectively) but was also present in 5\/1,014 Byelorussian and 2\/1,017 German control individuals (adjusted OR = 1.9, 95%CI 0.8\u20134.6, <jats:italic>p<\/jats:italic> = 0.18). Studies of lymphoblastoid cell lines revealed that NBS1\/p95 protein levels were reduced to 70% in cells from a heterozygous breast cancer patient carrying R215W and to 15% in cells from a NBS patient compound heterozygous for 657del5\/R215W suggesting that the R215W substitution may be associated with protein instability. Levels of radiation\u2010induced phosphorylation of Nbs1\/p95(Ser343) were reduced to 60% and 35% of wildtype, respectively. Neither age at diagnosis nor family history of breast cancer differed significantly between carriers and noncarriers of NBS mutations. The combined data are in line with an about 3\u2010fold increase in breast cancer risk for female NBS heterozygotes (OR 3.1; 95%CI 1.4\u20136.6) and indicate that the 657del5 deletion and perhaps the R215W substitution contribute to inherited breast cancer susceptibility in Central and Eastern Europe. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ijc.23168","type":"journal-article","created":{"date-parts":[[2007,10,23]],"date-time":"2007-10-23T19:19:33Z","timestamp":1193167173000},"page":"802-806","source":"Crossref","is-referenced-by-count":116,"title":["Nijmegen Breakage Syndrome mutations and risk of breast 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