Analysis of Mutations in DNA Isolated From Plasma and Stool of Colorectal Cancer Patients

Abstract

Background & Aims-Somatic mutations provide uniquely specific markers for the early detection of neoplasia that can be detected in DNA purified from plasma or stool of patients with colorectal cancer. The primary purpose of the present investigation was to determine the parameters that were critical for detecting mutations using a quantitative assay. A secondary purpose was to compare the results of plasma and stool DNA testing using the same technology.

A case‐control study of colorectal cancer detection by quantification of DNA isolated from directly collected exfoliated colonocytes

“…9,[11][12][13][14][15][16][17][18] The reliability of DNA amplification shown by our QRTPCR assay indicates that DNA isolated from material obtained with the new collection technique is of much higher quality than widely used DNA extracted from stool.…”

“…Purification of human DNA from stool is difficult, [14][15][16] and there is no unique molecular signature reliably indicating cancer presence. The latter difficulty resulted in the use of multimarker assays, 3,9,[11][12][13][14][15][16][17][18] making the cost-effectiveness of the approach a major issue. 9,[19][20][21] It has been suggested that exfoliated colonocytes collected directly from the surface of colonic mucosa could serve for diagnostic and research applications better than stool-derived material.…”

“…3,7 In many countries FOBT remains the most popular mass screening method due to its low cost, noninvasiveness and simplicity, however this test often produces both false-negative and false-positive results. [3][4][5][6][8][9][10] Stool DNA analysis targeting molecular markers in exfoliated colonocytes excreted with faeces is being actively developed, [12][13][14][15][16][17][18] but its suitability for CRC screening is still questioned. Purification of human DNA from stool is difficult, [14][15][16] and there is no unique molecular signature reliably indicating cancer presence.…”

926 KRas Mutation Analysis by PCR – Comparison of Two Methods

“…The understanding of colorectal cancer (CRC) biology is rapidly growing and several molecular pathways including Wnt-β-catenin, TGF-β and epidermal growth factor receptor (EGFR) signalling have been identified that are deregulated at different stages of colon carcinogenesis [2,3]. Genetic alterations in CRC show promise as potential biomarkers for early cancer diagnosis as well as in selection of patients for treatment [4][5][6][7][8]. In recent years targeted therapies inhibiting EGFR signalling have been introduced into clinical practice resulting in improvement of overall survival of a subset of patients with advanced metastatic disease.…”

Detection of fecal interferon-induced transmembrane protein messenger RNA for colorectal cancer screening

“…Methods using fecal DNA allow for the detection of mutated (13)(14)(15)(16), methylated (17)(18)(19)(20)(21)(22) or long DNA (21,23,24). Results from various studies on fecal RNA-based analysis by reverse-transcription polymerase chain reaction (RT-PCR) for CRC screening have been reported (25)(26)(27)(28)(29)(30)(31).…”