{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T10:43:11Z","timestamp":1771065791765,"version":"3.50.1"},"reference-count":29,"publisher":"American Society of Clinical Oncology (ASCO)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCO"],"published-print":{"date-parts":[[2007,1,1]]},"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p> Women carrying a CHEK2*1100delC germline mutation have an increased risk of developing breast cancer. This study aims to determine the proportion of CHEK2*1100delC carriers in a premenopausal breast cancer population, unselected for family history of breast cancer, and to investigate tumor characteristics and disease outcome with sufficient follow-up. <\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods<\/jats:title><jats:p> We identified a retrospective cohort of 1,479 patients, who received surgery for invasive breast cancer between 1970 and 1994. All patients were diagnosed before age 50. Paraffin-embedded tissue blocks were collected for DNA isolation (normal tissue), subsequent CHEK2*1100delC analysis, and tumor revision. Median follow-up was 10.1 years. <\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p> We detected a CHEK2*1100delC germline mutation in 54 patients (3.7%). Tumor characteristics of CHEK2*1100delC carriers did not differ significantly from those of noncarriers. CHEK2*1100delC carriers had a two-fold increased risk (hazard ratio [HR], 2.1; 95% CI, 1.0 to 4.3; P = .049) of developing a second breast cancer and they had worse recurrence-free survival (HR, 1.7; 95% CI, 1.2 to 2.4; P = .006) and worse breast cancer\u2013specific survival (HR, 1.4; 95% CI, 1.0 to 2.1; P = .072) compared with noncarriers. The poorer disease outcome of CHEK2*1100delC carriers could not be explained by the increased risk of second breast cancer. <\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p> Our study, which is representative for the premenopausal breast cancer population, reveals approximately 4% CHEK2*1100delC carriers have an increased risk of second breast cancer and a worse long-term recurrence-free survival rate. Their identification at time of diagnosis and prolonged intensive follow-up should be considered to optimize clinical management. <\/jats:p><\/jats:sec>","DOI":"10.1200\/jco.2006.06.3024","type":"journal-article","created":{"date-parts":[[2006,11,29]],"date-time":"2006-11-29T03:13:25Z","timestamp":1164770005000},"page":"64-69","source":"Crossref","is-referenced-by-count":110,"title":["Breast Cancer Survival and Tumor Characteristics in Premenopausal Women Carrying the <i>CHEK2*1100delC<\/i> Germline Mutation"],"prefix":"10.1200","volume":"25","author":[{"given":"Marjanka K.","family":"Schmidt","sequence":"first","affiliation":[{"name":"From the Departments of Epidemiology, Pathology, and Experimental Therapy, the Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam; and Departments of Surgery and Pathology, Leiden University Medical Center, the Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rob A.E.M.","family":"Tollenaar","sequence":"additional","affiliation":[{"name":"From the Departments of Epidemiology, Pathology, and Experimental Therapy, the Netherlands Cancer Institute-Antoni van Leeuwenhoek Hospital, Amsterdam; 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