{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T12:26:43Z","timestamp":1790857603886,"version":"4.1.0"},"reference-count":24,"publisher":"American Society of Clinical Oncology (ASCO)","issue":"18","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCO"],"published-print":{"date-parts":[[2008,6,20]]},"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p>Truncating and missense mutations in the ATM gene, which cause insufficient DNA damage surveillance, allow damaged cells to proceed into mitosis, which eventually results in increased cancer susceptibility. We tested the hypotheses that ATM Ser49Cys and ATM Ser707Pro heterozygosity increase the risk of cancer overall, of breast cancer, and of 26 other cancer subtypes in the general population.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods<\/jats:title><jats:p>We genotyped 10,324 individuals from the Danish general population who were observed prospectively for 36 years, during which 2,056 developed cancer.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus noncarriers were 1.2 (95% CI, 0.9 to 1.5) for cancer overall, 0.8 (95% CI, 0.3 to 2.0) for breast cancer, 4.8 (95% CI, 2.2 to 11) for melanoma, 2.3 (95% CI, 1.1 to 5.0) for prostate cancer, and 3.4 (95% CI, 1.1 to 11) for cancer of the oral cavity\/pharynx. Multifactorially adjusted hazard ratios for ATM Ser707Pro heterozygotes versus noncarriers were 0.8 (95% CI, 0.6 to 1.2) for cancer overall, 0.6 (95% CI, 0.2 to 1.6) for breast cancer, 10 (95% CI, 1.1 to 93) for thyroid\/other endocrine tumors, and 2.7 (95% CI, 1.0 to 7.6) for cancer of corpus uteri.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>ATM missense mutations do not increase the risk of cancer overall or of breast cancer in the general population; however, we observed in exploratory analyses that ATM missense mutations may be associated with an increased risk of other cancer subtypes. As we did multiple comparisons, some of these findings could represent chance findings rather than real phenomena.<\/jats:p><\/jats:sec>","DOI":"10.1200\/jco.2007.14.6613","type":"journal-article","created":{"date-parts":[[2008,6,18]],"date-time":"2008-06-18T22:28:29Z","timestamp":1213828109000},"page":"3057-3062","source":"Crossref","is-referenced-by-count":63,"title":["Risk of Cancer by<i>ATM<\/i>Missense Mutations in the General Population"],"prefix":"10.1200","volume":"26","author":[{"given":"Sarah Louise","family":"Dombernowsky","sequence":"first","affiliation":[{"name":"From the Department of Clinical Biochemistry, Herlev University Hospital, Herlev; the Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, and the Copenhagen City Heart Study, Bispebjerg University Hospital, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maren","family":"Weischer","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Herlev University Hospital, Herlev; the Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, and the Copenhagen City Heart Study, Bispebjerg University Hospital, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristine H\u00f8jgaard","family":"Allin","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Herlev University Hospital, Herlev; the Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, and the Copenhagen City Heart Study, Bispebjerg 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, Herlev; the Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, and the Copenhagen City Heart Study, Bispebjerg University Hospital, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Tybjjrg-Hansen","sequence":"additional","affiliation":[{"name":"From the Department of Clinical Biochemistry, Herlev University Hospital, Herlev; the Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, and the Copenhagen City Heart Study, Bispebjerg 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, Herlev; the Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, and the Copenhagen City Heart Study, Bispebjerg University Hospital, University of Copenhagen, Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"233","reference":[{"key":"R1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tibs.2006.05.004"},{"key":"R2","doi-asserted-by":"publisher","DOI":"10.1023\/B:JOMG.0000048772.92326.a1"},{"key":"R3","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2942"},{"key":"R4","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199112263252602"},{"key":"R5","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/dji141"},{"key":"R6","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6602007"},{"key":"R7","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl033"},{"key":"R8","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20323"},{"key":"R9","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.20133"},{"key":"R10","unstructured":"D\u00f6rk T, Bendix R, Bremer M, et al: Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients. 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