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Hu C, LaDuca H, Shimelis H, et al. Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes. JCO Precis Oncol. 2018;2doi: 10.1200/PO.17.00291.
Hu, C., LaDuca, H., Shimelis, H., Polley, E. C., Lilyquist, J., Hart, S. N., Na, J., Thomas, A., Lee, K. Y., Davis, B. T., Black, M. H., Pesaran, T., Goldgar, D. E., Dolinsky, J. S., & Couch, F. J. (2018). Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes. JCO precision oncology, 2. https://doi.org/10.1200/PO.17.00291
Hu, Chunling, et al. "Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes." JCO precision oncology vol. 2 (2018). doi: https://doi.org/10.1200/PO.17.00291
Hu C, LaDuca H, Shimelis H, Polley EC, Lilyquist J, Hart SN, Na J, Thomas A, Lee KY, Davis BT, Black MH, Pesaran T, Goldgar DE, Dolinsky JS, Couch FJ. Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes. JCO Precis Oncol. 2018;2. doi: 10.1200/PO.17.00291. Epub 2018 Jul 25. PMID: 31497750; PMCID: PMC6731034.
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JCO Precis Oncol. 2018;2. doi: 10.1200/PO.17.00291. Epub 2018 Jul 25.

Multigene Hereditary Cancer Panels Reveal High-Risk Pancreatic Cancer Susceptibility Genes.

JCO precision oncology

Chunling Hu, Holly LaDuca, Hermela Shimelis, Eric C Polley, Jenna Lilyquist, Steven N Hart, Jie Na, Abigail Thomas, Kun Y Lee, Brigette Tippin Davis, Mary Helen Black, Tina Pesaran, David E Goldgar, Jill S Dolinsky, Fergus J Couch

Affiliations

  1. , and , Mayo Clinic, Rochester, MN; , and , Ambry Genetics, Aliso Viejo, CA; and , University of Utah, Salt Lake City, UT.

PMID: 31497750 PMCID: PMC6731034 DOI: 10.1200/PO.17.00291

Abstract

PURPOSE: The relevance of inherited pathogenic mutations in cancer predisposition genes in pancreatic cancer is not well understood. We aimed to assess the characteristics of patients with pancreatic cancer referred for hereditary cancer genetic testing and to estimate the risk of pancreatic cancer associated with mutations in panel-based cancer predisposition genes in this high-risk population.

METHODS: Patients with pancreatic cancer (N = 1,652) were identified from a 140,000-patient cohort undergoing multigene panel testing of predisposition genes between March 2012 and June 2016. Gene-level mutation frequencies relative to Exome Aggregation Consortium and Genome Aggregation Database reference controls were assessed.

RESULTS: The frequency of germline cancer predisposition gene mutations among patients with pancreatic cancer was 20.73%. Mutations in

CONCLUSION: These findings provide insight into the spectrum of mutations expected in patients with pancreatic cancer referred for cancer predisposition testing. Mutations in eight genes confer high or moderate risk of pancreatic cancer and may prove useful for risk assessment for pancreatic and other cancers. Family and personal histories of breast cancer are strong predictors of germline mutations.

Conflict of interest statement

AUTHORS’ DISCLOSURES OF POTENTIAL CONFLICTS OF INTEREST The following represents disclosure information provided by authors of this manuscript. All relationships are considered compensated. Relationsh

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