Prevalence of pathogenic mutations in cancer predisposition genes among pancreatic cancer patients

Chunling Hu, Steven N. Hart, William R. Bamlet, Raymond M. Moore, Kannabiran Nandakumar, Bruce W. Eckloff, Yean K. Lee, Gloria M. Petersen, Robert R. McWilliams, Fergus J. Couch

Research output: Contribution to journalArticlepeer-review

78 Scopus citations


The prevalence of germline pathogenic mutations in a comprehensive panel of cancer predisposition genes is not well-defined for patients with pancreatic ductal adenocarcinoma (PDAC). To estimate the frequency of mutations in a panel of 22 cancer predisposition genes, 96 patients unselected for a family history of cancer who were recruited to the Mayo Clinic Pancreatic Cancer patient registry over a 12-month period were screened by next-generation sequencing. Fourteen pathogenic mutations in 13 patients (13.5%) were identified in eight genes: four in ATM, two in BRCA2, CHEK2, and MSH6, and one in BARD1, BRCA1, FANCM, and NBN. These included nine mutations (9.4%) in established pancreatic cancer genes. Three mutations were found in patients with a first-degree relative with PDAC, and 10 mutations were found in patients with first- or second-degree relatives with breast, pancreas, colorectal, ovarian, or endometrial cancers. These results suggest that a substantial proportion of patients with PDAC carry germline mutations in predisposition genes associated with other cancers and that a better understanding of pancreatic cancer risk will depend on evaluation of families with broad constellations of tumors. These findings highlight the need for recommendations governing germline gene-panel testing of patients with pancreatic cancer.

Original languageEnglish (US)
Pages (from-to)207-211
Number of pages5
JournalCancer Epidemiology Biomarkers and Prevention
Issue number1
StatePublished - Jan 2016

ASJC Scopus subject areas

  • Epidemiology
  • Oncology


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