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J Genet Couns ; 21(4): 484-93, 2012 Aug.
Article in English | MEDLINE | ID: mdl-22167527

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.


Subject(s)
Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Colorectal Neoplasms/genetics , Genetic Counseling , Genetic Predisposition to Disease , Genetic Testing , Societies, Medical , Adaptor Proteins, Signal Transducing/genetics , Adenosine Triphosphatases/genetics , Antigens, Neoplasm/genetics , Base Pair Mismatch , Cell Adhesion Molecules/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/pathology , DNA Methylation , DNA Repair , DNA Repair Enzymes/genetics , DNA-Binding Proteins/genetics , Epithelial Cell Adhesion Molecule , Humans , Immunohistochemistry , Microsatellite Instability , Mismatch Repair Endonuclease PMS2 , MutL Protein Homolog 1 , Nuclear Proteins/genetics , Proto-Oncogene Proteins B-raf/genetics
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