title: Mismatch repair gone awry: Management of Lynch syndrome.
abstract: The hallmark of Lynch syndrome involves germline mutations of genes important in DNA mismatch repair. Affected family kindreds will have multiple associated malignancies, the most common of which is colorectal adenocarcinoma. Recently, evidence has shown that clinical diagnostic criteria provided by the Amsterdam Criteria and the Bethesda Guidelines must be linked with microsatellite instability testing to correctly diagnose Lynch syndrome. We present a case of metachronous colorectal adenocarcinomas in a patient less than 50 years of age, followed by a discussion of Lynch syndrome, with an emphasis on surveillance and prevention of malignancies.
authors.affiliation: Hematology and Medical Oncology, Duke Cancer Institute, Department of Medicine, Duke University Medical Center, DUMC 3841, Durham, NC 27710, United States. Electronic address: tian.zhang2@duke.edu.
authors.forename: Tian
authors.initials: T
authors.lastname: Zhang
authors.affiliation: Pathology and Laboratory Medicine Service, Durham VA Medical Center, 508 Fulton St., Durham, NC 27705, United States. Electronic address: Elizabeth.boswell@va.gov.
authors.forename: Elizabeth L
authors.initials: EL
authors.lastname: Boswell
authors.affiliation: Duke Cancer Institute, Department of Pathology, Duke University Medical Center, DUMC 3712, Durham, NC 27710, United States. Electronic address: shannon.mccall@duke.edu.
authors.forename: Shannon J
authors.initials: SJ
authors.lastname: McCall
authors.affiliation: Duke Cancer Institute, Department of Medicine, Division of Medical Oncology, Duke University Medical Center, DUMC 3233, Durham, NC 27710, United States. Electronic address: shiaowen.hsu@dm.duke.edu.
authors.forename: David S
authors.initials: DS
authors.lastname: Hsu
mesh_terms: D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics* / Q000517:prevention & control / Q000628:therapy; D053843:DNA Mismatch Repair; D019468:Disease Management; D006801:Humans; D007413:Intestinal Mucosa / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation
keywords: Colorectal cancer; Hereditary gastrointestinal malignancies; Lynch syndrome; Microsatellite instability; Mismatch repair