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fecal DNA testing

Indications: - screening for colon cancer Clinical significance: - more sensitive, but less specific than fecal occult blood (FOB) - sensitivity of fecal DNA testing for detecting colorectal cancer is 52% vs 13% for FOB [1] - sensitivity of fecal DNA testing for detecting advanced tubular adenomas is 18% vs 11% for FOB [1] - sensitivity 92% vs. 74% (FOB) for detecting colorectal cancer [3] - specificity 87% vs. 95% (FOB) for detecting colorectal cancer [3] Notes: - cost: $600 (2014)

Specific

digital protein truncation assay fecal RT-PCR of 10 DNA markers + fecal hemoglobin multitarget stool DNA; mt-sDNA, (Cologuard)

General

molecular diagnostic test DNA (genetic) testing

References

  1. Journal Watch 25(2):13, 2005 Imperiale TF, Ransohoff DF, Itzkowitz SH, Turnbull BA, Ross ME; Colorectal Cancer Study Group. Fecal DNA versus fecal occult blood for colorectal-cancer screening in an average-risk population. N Engl J Med. 2004 Dec 23;351(26):2704-14. PMID: 15616205
  2. Traverso G, Shuber A, Olsson L, Levin B, Johnson C, Hamilton SR, Boynton K, Kinzler KW, Vogelstein B. Detection of proximal colorectal cancers through analysis of faecal DNA. Lancet. 2002 Feb 2;359(9304):403-4. PMID: 11844514
  3. Imperiale TF et al Multitarget Stool DNA Testing for Colorectal-Cancer Screening. N Engl J Med. March 18, 2014 PMID: 24645800 http://www.nejm.org/doi/full/10.1056/NEJMoa1311194 - Robertson DJ and Dominitz JA Stool DNA and Colorectal-Cancer Screening. N Engl J Med. March 18, 2014 PMID: 24645801 http://www.nejm.org/doi/full/10.1056/NEJMe1400092
  4. Carethers JM JAMA Diagnostic Test Interpretation Stool-Based Screening Tests for Colorectal Cancer JAMA. Published online February 17, 2023 PMID: 36800187 https://jamanetwork.com/journals/jama/fullarticle/2801813