{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T05:22:18Z","timestamp":1790400138213,"version":"4.1.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,2,9]],"date-time":"2006-02-09T00:00:00Z","timestamp":1139443200000},"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":[[2006,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recent studies have demonstrated that heterozygous carriers of the <jats:italic>NBS1<\/jats:italic> 657del5 mutation have an increased risk for familial and bilateral breast cancer, but similar studies in consecutive breast cancer patients were inconclusive. Here, in a study of 562 nonselected breast cancer patients from Central Poland, we found 11 (1.96%) 657del5 mutation carriers <jats:italic>vs.<\/jats:italic> 3.47 expected (OR 3.21, 95%CI: 1.36\u20137.61, <jats:italic>p<\/jats:italic> = 0.0107) and only 9 (1.6%) carriers of the 5382insC mutation of the <jats:italic>BRCA1<\/jats:italic> gene, most frequently found among breast cancer patients in Poland. No carriers of R215W, another pathogenic mutation of the <jats:italic>NBS1<\/jats:italic> gene, were found in the present study. All carriers of the 657del5 mutation had sporadic breast tumors while 5 of 9 5382insC carriers had a family history of breast\/ovarian cancer or bilateral breast carcinoma. In the pooled group of patients from the present and our previous study, carried out also in patients from Central Poland, we obtained the following risk estimates (OR) for 657del5 carriers, as related to the age at breast cancer diagnosis: &lt;40 years: 8.36; (95%CI: 2.57\u201327.27) <jats:italic>p<\/jats:italic> = 0.0003; &lt;50 years: 4.27 (95%CI: 1.67\u201310.89) <jats:italic>p<\/jats:italic> = 0.003; \u226550 years: 2.40 (95%CI: 0.91\u20136.35) <jats:italic>p<\/jats:italic> = 0.1250; all ages: 3.13 (95% CI: 1.40\u20137.00) <jats:italic>p<\/jats:italic> = 0.0066. These findings demonstrate conclusively that <jats:italic>NBS1<\/jats:italic> 657del5 mutation carriers have a significantly, though moderately increased, age\u2010related risk of breast cancer, and imply that in populations with a high 657del5 carrier frequency this mutation may contribute substantially to the overall incidence of breast cancer, particularly in younger age groups. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ijc.21853","type":"journal-article","created":{"date-parts":[[2006,5,4]],"date-time":"2006-05-04T04:37:52Z","timestamp":1146717472000},"page":"472-475","source":"Crossref","is-referenced-by-count":81,"title":["Germline mutations 657del5 of the <i>NBS1<\/i> gene contribute significantly to the incidence of breast cancer in Central Poland"],"prefix":"10.1002","volume":"119","author":[{"given":"Jan","family":"Steffen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Nowakowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Niwi\u0144ska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Czapczak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kluska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Pi\u0105tkowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alicja","family":"Wi\u015bniewska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zygmut","family":"Paszko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,4,27]]},"reference":[{"key":"e_1_2_6_2_2","first-page":"605","article-title":"The 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