Diagnosing lynch syndrome in absence of colorectal cancer

Research output: Contribution to journalReview article

1 Citation (Scopus)

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 languageEnglish
Pages (from-to)485-488
Number of pages4
JournalExpert Opinion on Medical Diagnostics
Volume6
Issue number6
DOIs
StatePublished - Nov 2012

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Hereditary Nonpolyposis Colorectal Neoplasms
Microsatellite Instability
Microsatellite Repeats
Colorectal Neoplasms
Colonic Polyps
Histology
DNA Mismatch Repair
Germ-Line Mutation
Colonoscopy
Polyps
Age of Onset
Epidermal Growth Factor Receptor
Adenoma
Carcinogenesis
Repair
Immunohistochemistry
Carcinoma
Neoplasms
Epidermal Growth Factor

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 journalReview article

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