title: Detection of proximal colorectal cancers through analysis of faecal DNA.
abstract: Detection of mutations in faecal DNA represents a promising, non-invasive approach for detecting colorectal cancers in average-risk populations. One of the first practical applications of this technology involves the examination of microsatellite markers in sporadic cancers with mismatch-repair deficiencies. Since such cancers nearly always occur in the proximal colon, this test might be useful as an adjunct to sigmoidoscopy, which detects only distal colorectal lesions. We report here the first in-depth analysis of faecal DNA from patients with proximal cancers to determine the feasibility, sensitivity, and specificity of this approach. Using a sensitive method for microsatellite mutation detection, we found that 18 of 46 cancers had microsatellite alterations and that identical mutations could be identified in the faecal DNA of 17 of these 18 cases.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Traverso
authors.forename: Anthony
authors.initials: A
authors.lastname: Shuber
authors.forename: Louise
authors.initials: L
authors.lastname: Olsson
authors.forename: Bernard
authors.initials: B
authors.lastname: Levin
authors.forename: Constance
authors.initials: C
authors.lastname: Johnson
authors.forename: Stanley R
authors.initials: SR
authors.lastname: Hamilton
authors.forename: Kevin
authors.initials: K
authors.lastname: Boynton
authors.forename: Kenneth W
authors.initials: KW
authors.lastname: Kinzler
authors.forename: Bert
authors.initials: B
authors.lastname: Vogelstein
mesh_terms: D000236:Adenoma / Q000175:diagnosis / Q000235:genetics*; D003113:Colonoscopy; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005240:Feasibility Studies; D005243:Feces; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D012680:Sensitivity and Specificity
chemical_list: D004247:DNA