Microsatellite instability and colorectal cancer.

摘要: Context.—About 15% of colorectal cancers are characterized by genomic microsatellite instability, and these, about 1 in 5 (2%–4% overall) due to Lynch syndrome, a dominantly inherited condition predisposing the patient multiple organ systems, including gastrointestinal tract. Identification individuals with syndrome allows for increased surveillance affected individual potentially family members. Objective.—To review literature on instability cancer current laboratory diagnostic testing strategies detection syndrome. Data Sources.—This is based peer-reviewed literature, published guidelines from professional organizations (Evaluation Genomic Applications Practice Prevention Working Group, National Comprehensive Cancer Network), information clinical laboratories performing testing. Conclusions.—Universal screening all in...