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

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Abstract

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
Volume16
Issue number2
DOIs
StatePublished - Feb 2007

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Pancreatic Neoplasms
Mutation
Ovarian Neoplasms
BRCA2 Gene
Breast Neoplasms
Germ-Line Mutation
Mutation Rate
Age of Onset
Registries
Neoplasms

ASJC Scopus subject areas

  • Epidemiology
  • Oncology

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The prevalence of BRCA2 mutations in familial pancreatic cancer. / Couch, Fergus J; Johnson, Michele R.; Rabe, Kari G.; Brune, Kieran; De Andrade, Mariza; Goggins, Michael; Rothenmund, Heidi; Gallinger, Steven; Klein, Alison; Petersen, Gloria M; Hruban, Ralph H.

In: Cancer Epidemiology Biomarkers and Prevention, Vol. 16, No. 2, 02.2007, p. 342-346.

Research output: Contribution to journalArticle

Couch, FJ, Johnson, MR, Rabe, KG, Brune, K, De Andrade, M, Goggins, M, Rothenmund, H, Gallinger, S, Klein, A, Petersen, GM & Hruban, RH 2007, 'The prevalence of BRCA2 mutations in familial pancreatic cancer', Cancer Epidemiology Biomarkers and Prevention, vol. 16, no. 2, pp. 342-346. https://doi.org/10.1158/1055-9965.EPI-06-0783
Couch, Fergus J ; Johnson, Michele R. ; Rabe, Kari G. ; Brune, Kieran ; De Andrade, Mariza ; Goggins, Michael ; Rothenmund, Heidi ; Gallinger, Steven ; Klein, Alison ; Petersen, Gloria M ; Hruban, Ralph H. / The prevalence of BRCA2 mutations in familial pancreatic cancer. In: Cancer Epidemiology Biomarkers and Prevention. 2007 ; Vol. 16, No. 2. pp. 342-346.
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