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Comment & Response
July 6, 2017

Mutation Frequencies in Patients With Early-Onset Colorectal Cancer

Author Affiliations
  • 1Women’s College Research Institute, Women’s College Hospital, Toronto, Ontario, Canada
  • 2Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada
  • 3Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada
JAMA Oncol. Published online July 6, 2017. doi:10.1001/jamaoncol.2017.0084

To the Editor Pearlman et al1 show what can be achieved through the cooperation of cancer registries with pathologists and other clinicians. The study participants were 450 newly identified young men and women with colon cancer who were treated at one of 51 Ohio hospitals. Both blood and paraffin-embedded tumor samples were submitted to the core molecular and pathology laboratories. Using a panel of 25 cancer susceptibility genes as a genetic screening test, 72 patients were found to carry a pathogenic mutation; of these, 59 mutations were in genes associated with colon cancer and 13 mutations were in genes associated with breast or pancreatic cancer but not (classically) with colon cancer.

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