Diagnosing lynch syndrome in absence of colorectal cancer

Henry T. Lynch, Joseph Knezetic, Stephen Lanspa

Research output: Contribution to journalReview articlepeer-review

1 Scopus citations


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 languageEnglish (US)
Pages (from-to)485-488
Number of pages4
JournalExpert Opinion on Medical Diagnostics
Issue number6
StatePublished - Nov 2012

All Science Journal Classification (ASJC) codes

  • Biomedical Engineering
  • Molecular Medicine
  • Biochemistry, medical


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