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Frequency of the CHEK2 1100delC Mutation among Women with Breast Cancer: An International Study

¹ Women's College Research Institute and ² Department of Surgery, University Health Network, University of Toronto; ³ Sunnybrook Regional Cancer Centre, Toronto, Ontario, Canada; ⁴ H. Lee Moffitt Cancer Center and Research Institute, Tampa, Florida; ⁵ Departments of Medical Biology and Genetics, Université Laval, Quebec, Quebec, Canada; ⁶ Epidemiology Research Unit, Research Centre, Centre hospitalier de l'Universite de Montreal and ⁷ Department of Surgery, Hotel-Dieu de Montreal, Universite de Montreal; ⁸ Departments of Genetics and Medical Oncology, McGill University, Montreal, Quebec, Canada; ⁹ Department of Preventive Medicine and Public Health, Creighton University School of Medicine, Omaha, Nebraska; ¹⁰ Department of Pathology and Laboratory Medicine, British Columbia Cancer Agency, University of British Columbia, Vancouver, British Columbia, Canada; ¹¹ Department of Surgery, College of Medicine and Philippine General Hospital, Manila, Philippines; ¹² Department of Medical Oncology, Allama Iqbal Medical College, Lahore, Pakistan; ¹³ Department of Oncology, Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro and Antonio Pedro University Hospital, Fluminense Federal University; ¹⁴ Department of Obstetrics and Gynecology, Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil; and ¹⁵ Amgen Inc., Thousand Oaks, California

Requests for reprints: Steven A. Narod, Women's College Research Institute, University of Toronto, 790 Bay Street, 7th Floor, Toronto, Ontario, Canada M5G 1N8. Phone: 416-351-3765; Fax: 416-351-3767; E-mail: steven.narod{at}wchospital.ca.

Key Words: CHEK2 • breast cancer • heredity • susceptibility • genetics

A founder allele in the CHEK2 gene (1100delC) has been associated with an elevated risk of breast cancer. This allele is responsible for the majority of CHEK2-associated breast cancers in women from northern European countries; however, within Europe, it seems to be rare in countries that are close to the Mediterranean. The frequency of the 1100delC allele has not been measured in non-White populations. We measured the frequency of the CHEK2 founder allele in 3,882 breast cancer patients and 8,609 controls from various countries. The allele was not seen among Asian patients (from Pakistan or the Philippines) and was present in 1 of 155 cases from Brazil. Among White women, the allele was present in 1.5% of 825 familial cases of breast cancer and in 0.7% of 1,106 patients with nonfamilial breast cancer. The allele was equally frequent in Jewish and non-Jewish patients. We estimate that the CHEK2 1100delC allele is associated with an odds ratio of 2.6 for breast cancer, which corresponds to a lifetime risk of 24% in Ontario. [Cancer Res 2008;68(7):2154–7]

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