{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,28]],"date-time":"2026-10-28T18:14:24Z","timestamp":1793211264499,"version":"4.5.0"},"reference-count":50,"publisher":"American Society of Clinical Oncology (ASCO)","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCO"],"published-print":{"date-parts":[[2008,2,1]]},"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p> CHEK2*1100delC heterozygosity may be associated with an increased risk of breast cancer; however, it is unclear whether the evidence is sufficient to recommend genotyping in clinical practice. <\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods<\/jats:title><jats:p> We identified studies on CHEK2*1100delC heterozygosity and the risk of unselected, early-onset, and familial breast cancer through comprehensive, computer-based searches of PubMed, EMBASE, and Web of Science. Aggregated risk estimates were compared with previous estimates for BRCA1 and BRCA2 mutation heterozygotes. <\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p> By using fixed-effect models for CHEK2*1100delC heterozygotes versus noncarriers, we found aggregated odds ratios of 2.7 (95% CI, 2.1 to 3.4) for unselected breast cancer, 2.6 (95% CI, 1.3 to 5.5) for early-onset breast cancer, and 4.8 (95% CI, 3.3 to 7.2) for familial breast cancer. For familial breast cancer, this corresponds to a cumulative risk of breast cancer at age 70 years in CHEK2*1100delC heterozygotes of 37% (95% CI, 26% to 56%), which compares with similar previous estimates of 57% (95% CI, 47% to 66%) for BRCA1 mutation heterozygotes and 49% (95% CI, 40% to 57%) for BRCA2 mutation heterozygotes. <\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p> These meta-analyses emphasize that CHEK2*1100delC is an important breast cancer\u2013predisposing gene, which increases the risk three- to five-fold. Because the cumulative risk of breast cancer at age 70 years among familial patient cases for CHEK2*1100delC heterozygotes is almost as high as that for BRCA1 and BRCA2 mutation heterozygotes, genotyping for CHEK2*1100delC should be considered together with BRCA1 and BRCA2 mutation screening in women with a family history of breast cancer. <\/jats:p><\/jats:sec>","DOI":"10.1200\/jco.2007.12.5922","type":"journal-article","created":{"date-parts":[[2008,1,3]],"date-time":"2008-01-03T02:00:21Z","timestamp":1199325621000},"page":"542-548","source":"Crossref","is-referenced-by-count":269,"title":["<i>CHEK2<\/i>*1100delC Genotyping for Clinical Assessment of Breast Cancer Risk: Meta-Analyses of 26,000 Patient Cases and 27,000 Controls"],"prefix":"10.1200","volume":"26","author":[{"given":"Maren","family":"Weischer","sequence":"first","affiliation":[{"name":"From the Department of Clinical Biochemistry, Herlev University Hospital; and the Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stig Egil","family":"Bojesen","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Herlev University Hospital; and the Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Ellervik","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Herlev University Hospital; and the Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Tybj\u00e6rg-Hansen","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Herlev University Hospital; and the Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00f8rge Gr\u00f8nne","family":"Nordestgaard","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Herlev University Hospital; and the Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"233","reference":[{"key":"R1","doi-asserted-by":"publisher","DOI":"10.1016\/S1535-6108(03)00110-7"},{"key":"R2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1209877"},{"key":"R3","doi-asserted-by":"publisher","DOI":"10.1200\/JCO.2005.05.5160"},{"key":"R4","doi-asserted-by":"publisher","DOI":"10.1158\/1055-9965.EPI-05-0557"},{"key":"R5","doi-asserted-by":"publisher","DOI":"10.1200\/jco.2004.22.90140.844"},{"key":"R6","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.20073"},{"key":"R7","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6600637"},{"key":"R8","doi-asserted-by":"publisher","DOI":"10.1038\/ng879"},{"key":"R9","doi-asserted-by":"publisher","DOI":"10.1086\/421251"},{"key":"R10","doi-asserted-by":"publisher","DOI":"10.1086\/341943"},{"key":"R11","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-006-9320-y"},{"key":"R12","doi-asserted-by":"publisher","DOI":"10.1016\/j.cancergencyto.2005.04.017"},{"key":"R13","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pmed.0030168"},{"key":"R14","doi-asserted-by":"publisher","DOI":"10.1186\/bcr933"},{"key":"R15","doi-asserted-by":"publisher","DOI":"10.1007\/s10549-004-4023-8"},{"key":"R16","doi-asserted-by":"publisher","DOI":"10.1002\/ijc.20439"},{"key":"R17","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejca.2005.04.049"},{"key":"R18","unstructured":"Van Binst T, Goelen G, Sermijn E, Van Hassel G, De Neef K, Bonduelle M, Fontaine C, Teugels E, and De Greve JJ: The *1100delC mutation predisposes for early-onset breast cancer in breast cancer families. 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