The prevalence of BRCA2 mutations in familial pancreatic cancer

Fergus J. Couch, Michele R. Johnson, Kari G. Rabe, Kieran Brune, Mariza De Andrade, Michael Goggins, Heidi Rothenmund, Steven Gallinger, Alison Klein, Gloria M. Petersen, Ralph H. Hruban

Research output: Contribution to journalArticlepeer-review

205 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)342-346
Number of pages5
JournalCancer Epidemiology Biomarkers and Prevention
Issue number2
StatePublished - Feb 2007

ASJC Scopus subject areas

  • General Medicine


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