title: A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.
abstract: Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which clinical manifestations, genetic screening, and cancer prevention strategies are limited. We report a case of CMMRD presenting with metachronous colorectal cancer and brain cancer. Oncologists and gastroenterologists should be aware of the CMMRD syndrome as a rare cause of very early-onset colorectal cancer.
authors.affiliation: Division of Gastroenterology and Hepatology, University of Texas Southwestern, Dallas, TX; Cancer Genetics Department, Jupiter Medical Center, Jupiter, FL.
authors.forename: William
authors.initials: W
authors.lastname: Rengifo-Cam
authors.affiliation: Huntsman Cancer Institute, University of Utah, Salt Lake City, UT.
authors.forename: Kory
authors.initials: K
authors.lastname: Jasperson
authors.affiliation: Huntsman Cancer Institute, University of Utah, Salt Lake City, UT; Division of Medical Oncology, University of Utah, Salt Lake City, UT.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Garrido-Laguna
authors.affiliation: Huntsman Cancer Institute, University of Utah, Salt Lake City, UT; Division of Medical Oncology, University of Utah, Salt Lake City, UT.
authors.forename: Howard
authors.initials: H
authors.lastname: Colman
authors.affiliation: Huntsman Cancer Institute, University of Utah, Salt Lake City, UT; Department of Surgery, University of Utah, Salt Lake City, UT.
authors.forename: Courtney
authors.initials: C
authors.lastname: Scaife
authors.affiliation: Huntsman Cancer Institute, University of Utah, Salt Lake City, UT; Department of Pathology, University of Utah, Salt Lake City, UT.
authors.forename: Wade
authors.initials: W
authors.lastname: Samowitz
authors.affiliation: Huntsman Cancer Institute, University of Utah, Salt Lake City, UT; Division of Gastroenterology and Hepatology, University of Utah, Salt Lake City, UT.
authors.forename: N Jewel
authors.initials: NJ
authors.lastname: Samadder