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.
| Original language | English |
|---|---|
| Pages (from-to) | 485-488 |
| Number of pages | 4 |
| Journal | Expert Opinion on Medical Diagnostics |
| Volume | 6 |
| Issue number | 6 |
| DOIs | |
| State | Published - Nov 2012 |
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All Science Journal Classification (ASJC) codes
- Biomedical Engineering
- Medicine(all)
- Biochemistry, medical
- Molecular Medicine
Cite this
Diagnosing lynch syndrome in absence of colorectal cancer. / Lynch, Henry T.; Knezetic, Joseph; Lanspa, Stephen J.
In: Expert Opinion on Medical Diagnostics, Vol. 6, No. 6, 11.2012, p. 485-488.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Diagnosing lynch syndrome in absence of colorectal cancer
AU - Lynch, Henry T.
AU - Knezetic, Joseph
AU - Lanspa, Stephen J.
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.
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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 -