title: Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline.
abstract: Identifying individuals who have Lynch syndrome (LS) involves a complex diagnostic work up that includes taking a detailed family history and a combination of various genetic and immunohistochemical tests. The National Society of Genetic Counselors (NSGC) and the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC) have come together to publish this clinical practice testing guideline for the evaluation of LS. The purpose of this practice guideline is to provide guidance and a testing algorithm for LS as well as recommendations on when to offer testing. This guideline does not replace a consultation with a genetics professional. This guideline includes explanations in support of this and a summary of background data. While this guideline is not intended to serve as a review of LS, it includes a discussion of background information on LS, and cites a number of key publications which should be reviewed for a more in-depth understanding of LS. These guidelines are intended for genetic counselors, geneticists, gastroenterologists, surgeons, medical oncologists, obstetricians and gynecologists, nurses and other healthcare providers who evaluate patients for LS.
authors.affiliation: Center for Medical Genetics, NorthShore University HealthSystem, Evanston, IL, USA. sweissman@northshore.org
authors.forename: Scott M
authors.initials: SM
authors.lastname: Weissman
authors.forename: Randall
authors.initials: R
authors.lastname: Burt
authors.forename: James
authors.initials: J
authors.lastname: Church
authors.forename: Steve
authors.initials: S
authors.lastname: Erdman
authors.forename: Heather
authors.initials: H
authors.lastname: Hampel
authors.forename: Spring
authors.initials: S
authors.lastname: Holter
authors.forename: Kory
authors.initials: K
authors.lastname: Jasperson
authors.forename: Matt F
authors.initials: MF
authors.lastname: Kalady
authors.forename: Joy Larsen
authors.initials: JL
authors.lastname: Haidle
authors.forename: Henry T
authors.initials: HT
authors.lastname: Lynch
authors.forename: Selvi
authors.initials: S
authors.lastname: Palaniappan
authors.forename: Paul E
authors.initials: PE
authors.lastname: Wise
authors.forename: Leigha
authors.initials: L
authors.lastname: Senter
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics; D000251:Adenosine Triphosphatases / Q000235:genetics; D000951:Antigens, Neoplasm / Q000235:genetics; D020137:Base Pair Mismatch; D015815:Cell Adhesion Molecules / Q000235:genetics; D015179:Colorectal Neoplasms / Q000235:genetics*; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000473:pathology; D019175:DNA Methylation; D004260:DNA Repair; D045643:DNA Repair Enzymes / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D000071858:Epithelial Cell Adhesion Molecule; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D007150:Immunohistochemistry; D053842:Microsatellite Instability; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D012955:Societies, Medical
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000951:Antigens, Neoplasm; D015815:Cell Adhesion Molecules; D004268:DNA-Binding Proteins; C499379:EPCAM protein, human; D000071858:Epithelial Cell Adhesion Molecule; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; D000251:Adenosine Triphosphatases; C094934:PMS2 protein, human; D000070976:Mismatch Repair Endonuclease PMS2; D000070957:MutL Protein Homolog 1; D045643:DNA Repair Enzymes