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Colorectal Cancer Molecular Diagnostics
Sporadic colorectal cancer diagnosis now includes routine molecular diagnostic evaluation of eight potential genes to identify hereditary cancer and guide prognosis and therapy. These genes include those for the family of mismatch repair proteins: MLH1, MSH2, MSH6, and PMS2 and KRAS, BRAF, PIC3CA, and PTEN. The five known hereditary colon cancer syndromes involve germline alterations in the mismatch repair genes as well as six additional genes: APC, MUTYH, STK11, BMPR1A, SMAD4, and PTEN. These sporadic and hereditary tumors, along with currently available molecular testing approaches, will be discussed.
Originally presented September 12, 2012 in Salt Lake City, Utah.
Mary Bronner, MD
Director, Anatomic Pathology/Oncology Divisions, ARUP Laboratories
Carl J. Kjeldsberg Professor of Pathology, University of Utah School of Medicine
Dr. Bronner is the director of the Anatomic Pathology and Oncology divisions at ARUP and professor of pathology at the University of Utah School of Medicine. Dr. Bronner received her MD from the University of Pennsylvania and completed her pathology residency training and chief residency at the Hospital of the University of Pennsylvania in Philadelphia. Dr. Bronner's honors include her election as president of the GI Pathology Society, election as council member of the United States and Canadian Academy of Pathology, and, in 2005, the award of the Arthur Purdy Stout Prize, recognizing her work as a surgical pathologist under the age of 45 whose research publications have had a major impact on diagnostic pathology. Her research interests include molecular biomarkers for the early detection and prevention of gastrointestinal cancers arising in chronic inflammatory disorders of the intestine, stomach, liver, and pancreas, which together make up the most important causes of human cancer worldwide.
After this presentation, participants will be able to:
- State the standard and routinely used molecular tests for sporadic and inherited colorectal cancer.
- Understand the algorithmic testing approaches, methodologies, challenges, and interpretation of these assays.
- Understand the clinical therapeutic and prognostic significance of the available molecular tests.
University of Utah School of Medicine and ARUP Laboratories