Hereditary nonpolyposis colorectal cancer laboratory tests

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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]Ali Akram, M.B.B.S.[3]

Overview

Laboratory findings consistent with the diagnosis of hereditary nonpolyposis colorectal cancer may include positive germline testing for hereditary nonpolyposis colorectal cancer genes (MLH1, MSH2, MSH6, and PMS2), positive EPCAM gene test, and elevated serum concentration of CEA and CA-125.

Laboratory Findings

Laboratory findings consistent with the diagnosis of hereditary nonpolyposis colorectal cancer may include:[1]

References

  1. Lynch HT, Drescher K, Knezetic J, Lanspa S (2014). "Genetics, biomarkers, hereditary cancer syndrome diagnosis, heterogeneity and treatment: a review". Curr Treat Options Oncol. 15 (3): 429–42. doi:10.1007/s11864-014-0293-5. PMID 24827900.


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