{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T06:41:14Z","timestamp":1792132874324,"version":"4.4.0"},"reference-count":39,"publisher":"American Society of Clinical Oncology (ASCO)","issue":"28","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCO"],"published-print":{"date-parts":[[2011,10,1]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>To estimate the risk of breast cancer in a woman who has a CHEK2 mutation depending on her family history of breast cancer.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients and Methods<\/jats:title>\n                    <jats:p>Seven thousand four hundred ninety-four BRCA1 mutation\u2013negative patients with breast cancer and 4,346 control women were genotyped for four founder mutations in CHEK2 (del5395, IVS2+1G&gt;A, 1100delC, and I157T).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>A truncating mutation (IVS2+1G&gt;A, 1100delC, or del5395) was present in 227 patients (3.0%) and in 37 female controls (0.8%; odds ratio [OR], 3.6; 95% CI, 2.6 to 5.1). The OR was higher for women with a first- or second-degree relative with breast cancer (OR, 5.0; 95% CI, 3.3 to 7.6) than for women with no family history (OR, 3.3; 95% CI, 2.3 to 4.7). If both a first- and second-degree relative were affected with breast cancer, the OR was 7.3 (95% CI, 3.2 to 16.8). Assuming a baseline risk of 6%, we estimate the lifetime risks for carriers of CHEK2 truncating mutations to be 20% for a woman with no affected relative, 28% for a woman with one second-degree relative affected, 34% for a woman with one first-degree relative affected, and 44% for a woman with both a first- and second-degree relative affected.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>CHEK2 mutation screening detects a clinically meaningful risk of breast cancer and should be considered in all women with a family history of breast cancer. Women with a truncating mutation in CHEK2 and a positive family history of breast cancer have a lifetime risk of breast cancer of greater than 25% and are candidates for magnetic resonance imaging screening and for tamoxifen chemoprevention.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1200\/jco.2010.34.0778","type":"journal-article","created":{"date-parts":[[2011,8,29]],"date-time":"2011-08-29T22:07:15Z","timestamp":1314655635000},"page":"3747-3752","source":"Crossref","is-referenced-by-count":237,"title":["Risk of Breast Cancer in Women With a\n                    <i>CHEK2<\/i>\n                    Mutation With and Without a Family History of Breast Cancer"],"prefix":"10.1200","volume":"29","author":[{"given":"Cezary","family":"Cybulski","sequence":"first","affiliation":[{"name":"Cezary Cybulski, Dominika Woko\u0142orczyk, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Bart\u0142omiej Masoj\u0107, Tadeusz D\u0119bniak, Bohdan G\u00f3rski, and Jan Lubi\u0144ski, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin; Pawe\u0142 Blecharz, Maria Sklodowska-Curie Memorial Institute, Krak\u00f3w, Poland; and Steven A. Narod, Women's College Research Institute, Toronto, Ontario, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominika","family":"Woko\u0142orczyk","sequence":"additional","affiliation":[{"name":"Cezary Cybulski, Dominika Woko\u0142orczyk, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Bart\u0142omiej Masoj\u0107, Tadeusz D\u0119bniak, Bohdan G\u00f3rski, and Jan Lubi\u0144ski, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin; Pawe\u0142 Blecharz, Maria Sklodowska-Curie Memorial Institute, Krak\u00f3w, Poland; and Steven A. Narod, Women's College Research Institute, Toronto, Ontario, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Jakubowska","sequence":"additional","affiliation":[{"name":"Cezary Cybulski, Dominika Woko\u0142orczyk, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Bart\u0142omiej Masoj\u0107, Tadeusz D\u0119bniak, Bohdan G\u00f3rski, and Jan Lubi\u0144ski, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin; Pawe\u0142 Blecharz, Maria Sklodowska-Curie Memorial Institute, Krak\u00f3w, Poland; and Steven A. Narod, Women's College Research Institute, Toronto, Ontario, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Huzarski","sequence":"additional","affiliation":[{"name":"Cezary Cybulski, Dominika Woko\u0142orczyk, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Bart\u0142omiej Masoj\u0107, Tadeusz D\u0119bniak, Bohdan G\u00f3rski, and Jan Lubi\u0144ski, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin; Pawe\u0142 Blecharz, Maria Sklodowska-Curie Memorial Institute, Krak\u00f3w, Poland; and Steven A. Narod, Women's College Research Institute, Toronto, Ontario, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz","family":"Byrski","sequence":"additional","affiliation":[{"name":"Cezary Cybulski, Dominika Woko\u0142orczyk, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Bart\u0142omiej Masoj\u0107, Tadeusz D\u0119bniak, Bohdan G\u00f3rski, and Jan Lubi\u0144ski, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin; Pawe\u0142 Blecharz, Maria Sklodowska-Curie Memorial Institute, Krak\u00f3w, Poland; and Steven A. Narod, Women's College Research Institute, Toronto, Ontario, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacek","family":"Gronwald","sequence":"additional","affiliation":[{"name":"Cezary Cybulski, Dominika Woko\u0142orczyk, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Bart\u0142omiej Masoj\u0107, Tadeusz D\u0119bniak, Bohdan G\u00f3rski, and Jan Lubi\u0144ski, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin; Pawe\u0142 Blecharz, Maria Sklodowska-Curie Memorial Institute, Krak\u00f3w, Poland; and Steven A. Narod, Women's College Research Institute, Toronto, Ontario, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bart\u0142omiej","family":"Masoj\u0107","sequence":"additional","affiliation":[{"name":"Cezary Cybulski, Dominika Woko\u0142orczyk, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Bart\u0142omiej Masoj\u0107, Tadeusz D\u0119bniak, Bohdan G\u00f3rski, and Jan Lubi\u0144ski, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin; Pawe\u0142 Blecharz, Maria Sklodowska-Curie Memorial Institute, Krak\u00f3w, Poland; and Steven A. Narod, Women's College Research Institute, Toronto, Ontario, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadeusz","family":"D\u0119bniak","sequence":"additional","affiliation":[{"name":"Cezary Cybulski, Dominika Woko\u0142orczyk, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Bart\u0142omiej Masoj\u0107, Tadeusz D\u0119bniak, Bohdan G\u00f3rski, and Jan Lubi\u0144ski, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin; Pawe\u0142 Blecharz, Maria Sklodowska-Curie Memorial Institute, Krak\u00f3w, Poland; and Steven A. Narod, Women's College Research Institute, Toronto, Ontario, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bohdan","family":"G\u00f3rski","sequence":"additional","affiliation":[{"name":"Cezary Cybulski, Dominika Woko\u0142orczyk, Anna Jakubowska, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Bart\u0142omiej Masoj\u0107, Tadeusz D\u0119bniak, Bohdan G\u00f3rski, and Jan Lubi\u0144ski, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin; Pawe\u0142 Blecharz, Maria Sklodowska-Curie Memorial Institute, Krak\u00f3w, Poland; and Steven A. 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