title: Diagnosing lynch syndrome in absence of colorectal cancer.
abstract: There are many ways in which a diagnosis of Lynch syndrome can be made, most prominent of which is family history, presence of cancer, high microsatellite instability, immunohistochemistry, and a mismatch repair germline mutation. There are at least four molecular pathways for colorectal cancer carcinogenesis: 1) adenoma-carcinoma sequence; 2) hereditary microsatellite instability; 3) serrated pathway; 4) epidermal growth factor receptor. The answer to diagnosing Lynch syndrome in the absence of colorectal cancer may be partially based upon the phenotypic characteristics of the colonic polyps should they be identified at colonoscopy, specifically their phenotypic characteristics of location, size, histology, number, and age of polyp onset.
authors.affiliation: Creighton University School of Medicine, Department of Preventive Medicine , 2500 California Plaza, Omaha, NE 68178 , USA +1 402 280 2942 ; +1402 280 1734 ; htlynch@creighton.edu.
authors.forename: Henry T
authors.initials: HT
authors.lastname: Lynch
authors.forename: Joseph
authors.initials: J
authors.lastname: Knezetic
authors.forename: Stephen
authors.initials: S
authors.lastname: Lanspa