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The Prevalence of BRCA2 Mutations in Familial Pancreatic Cancer

Departments of ¹ Laboratory Medicine and Pathology, ² Biochemistry and Molecular Biology, and ³ Health Sciences Research, Mayo Clinic College of Medicine, Rochester, Minnesota; Departments of ⁴ Pathology, ⁵ Oncology, and ⁶ Medicine, The Sol Goldman Center for Pancreatic Cancer Research, The Johns Hopkins Medical Institutions, Baltimore, Maryland; and ⁷ Centre for Cancer Genetics, Samuel Lunenfeld Research Institute, Mount Sinai Hospital, Toronto, Ontario, Canada

Requests for reprints: Fergus J. Couch, Mayo Clinic College of Medicine, 200 First Street Southwest, Rochester, MN 55905. Phone: 507-284-3623; Fax: 507-266-0824. E-mail: couch.fergus{at}mayo.edu

Mutations in the BRCA2 gene have been implicated in pancreatic cancer susceptibility through studies of high-risk breast and ovarian cancer families. To determine the contribution of mutations in BRCA2 to familial pancreatic cancer, we screened affected probands from 151 high-risk families identified through pancreatic cancer clinics for germ-line BRCA2 mutations. Of these families, 118 had two or more first- and second-degree relatives with pancreatic cancer, and an additional 33 had two or more affected second-degree relatives. The average age of onset for pancreatic cancer was 62.8 years. Five BRCA2 truncating mutations were identified, three in families with two or more first- and second-degree relatives with pancreatic cancer. Three of the families with mutations had a history of breast cancer but not ovarian cancer. Four of five families with mutations were identified through probands with early-onset (<55 years) pancreatic cancer. The results of this study were combined with those from a BRCA2 mutation study of 29 other families from the same Johns Hopkins University National Familial Pancreatic Tumor Registry to estimate the frequency of BRCA2 mutations. A total of 10 carriers from 180 families were identified, suggesting that BRCA2 mutations account for 6% of moderate and high-risk pancreatic cancer families. (Cancer Epidemiol Biomarkers Prev 2007;16(2):342–6)

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