Colon Cancer Detection Using Gene Mutation Study of Stool Samples

Dr. Bettina Scholtka Universität Potsdam Institut für Ernährungswissenschaft Abt. Ernährungstoxikologie Arthur-Scheunert-Allee 114-116 14558 Nuthetal, Germany.Dr. Bettina Scholtka
Universität Potsdam
Institut für Ernährungswissenschaft
Abt. Ernährungstoxikologie
Arthur-Scheunert-Allee 114-116
14558 Nuthetal, Germany. What are the main findings of the study?

Answer: The extremely high sensitivity of the WTB-HRM technique allows to find
very low amounts of different types of colon cancer initiating gene
mutations even in stool samples of patients. The method is able to
find the expected mutations as well as unknown mutations. So, by
applying WTB-HRM to a panel of especially selected marker genes, it is
possible to detect cancer precursors in feces before they progress
into a malignant stage. Were any of the findings unexpected?

Answer: We expected a quite good sensitivity of this technique because of
earlier experiments. But the ultra-high sensitivity of our assay was
quite surprising as well as the fact that we could detect mutations
being situated outside the DNA sequences that hybridized with our LNA
blocker molecules. What should clinicians and patients take away from your report?

Answer: It is worth to invest the time for performing a two-step method like
WTB-HRM consisting of mutation enrichment and mutation detection, in
order to achieve the sensitivity needed for non-invasive low-level
detection of cancer initiating mutations. By using WTB-HRM cancer
precursors can be detected in a stool sample of patients. By removing
those cancer precursors the disease could be prevented in many cases.
Patients should be aware that many types of cancer can only be cured
if they are detected early. Participating in screening programs is
highly recommended. What recommendations do you have for future research as a result of this study?

Answer: The WTB-HRM method should be applied on a gene marker panel
specifically selected for the detection of colon cancer precursors. A
multicenter study should be performed in order to validate the
sensitivity and specificity of the technique in comparison with the
standard screening method colonoscopy in a representative number of


Ultrasensitive Detection of Unknown Colon Cancer-Initiating Mutations Using the Example of the Adenomatous Polyposis Coli Gene 
Christian Gerecke, Conny Mascher,Uwe Gottschalk Burkhard Kleuser
and Bettina Scholtka
Cancer Prev Res September 2013 6:9 898-907; doi:10.1158/1940-6207.CAPR-13-0145