TY - JOUR
T1 - Diagnosing lynch syndrome in absence of colorectal cancer
AU - Lynch, Henry T.
AU - Knezetic, Joseph
AU - Lanspa, Stephen
N1 - Funding Information:
This work was supported by revenue from Nebraska cigarette taxes awarded to Creighton University by the Nebraska Department of Health and Human Services. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the State of Nebraska or the Nebraska Department of Health and Human Services and through a grant awarded by the Department of Defense, Prime Award W81XWH-11-1-0566. Dr. Henry Lynch’s work is partially funded through the Charles F. and Mary C. Heider Chair in Cancer Research, which he holds at Creighton University.
PY - 2012/11
Y1 - 2012/11
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=84867928458&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84867928458&partnerID=8YFLogxK
U2 - 10.1517/17530059.2012.722081
DO - 10.1517/17530059.2012.722081
M3 - Review article
C2 - 23480831
AN - SCOPUS:84867928458
VL - 6
SP - 485
EP - 488
JO - Expert Opinion on Medical Diagnostics
JF - Expert Opinion on Medical Diagnostics
SN - 1753-0059
IS - 6
ER -