Hereditary nonpolyposis colorectal cancer laboratory tests: Difference between revisions
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===Germline Testing=== | ===Germline Testing=== | ||
*EPCAM gene is required to establish the diagnosis of | *EPCAM gene is required to establish the diagnosis of hereditary nonpolyposis colorectal cancer.<ref name="pmid24827900">{{cite journal |vauthors=Lynch HT, Drescher K, Knezetic J, Lanspa S |title=Genetics, biomarkers, hereditary cancer syndrome diagnosis, heterogeneity and treatment: a review |journal=Curr Treat Options Oncol |volume=15 |issue=3 |pages=429–42 |year=2014 |pmid=24827900 |doi=10.1007/s11864-014-0293-5 |url=}}</ref> | ||
===CEA=== | ===CEA=== | ||
*CEA are glycosyl phosphatidyl inositol (GPI) cell surface anchored glycoproteins, which are specialized sialofucosylated glycoforms, that serve as a functional colon carcinoma L-selectin and E-selectin ligands, which may be critical to the metastatic dissemination of colon carcinoma cells. | *CEA are glycosyl phosphatidyl inositol (GPI) cell surface anchored glycoproteins, which are specialized sialofucosylated glycoforms, that serve as a functional colon carcinoma L-selectin and E-selectin ligands, which may be critical to the metastatic dissemination of colon carcinoma cells. | ||
Revision as of 15:02, 9 February 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]
Overview
Laboratory findings consistent with the diagnosis of hereditary nonpolyposis colorectal cancer are mainly related with the evaluation of genetic mutations; such as the germline testing for MMR (MLH1, MSH2, MSH6, and PMS2) or EPCAM gene testing. Other laboratory findings include: GCBC, FOBT, serum CEA, CA 19-9 concentration and CA 125, serum iron concentrations, serum vitamin B12 and folate concentrations, liver function tests, and pulmonary function tests.[1]
Laboratory tests
Germline Testing
- EPCAM gene is required to establish the diagnosis of hereditary nonpolyposis colorectal cancer.[1]
CEA
- CEA are glycosyl phosphatidyl inositol (GPI) cell surface anchored glycoproteins, which are specialized sialofucosylated glycoforms, that serve as a functional colon carcinoma L-selectin and E-selectin ligands, which may be critical to the metastatic dissemination of colon carcinoma cells.
CA 125
- CA-125 test may be used to look for early signs of ovarian cancer in women with a very high risk of the disease.