Table 1

Selected feasibility trials employing molecular diagnosis of clinical samples. This table lists selected pilot or feasibility trials using accessible clinical bodily samples in molecular detection approaches. These studies have employed both retrospective and prospective collection of samples, but only the study by Steiner et al. (22) reports prospective follow-up of the patient cohort. Studies using gene targets (ras and p53) report sensitivity of the molecular assays as a fraction of patients with tumors containing the sought-after mutation. The other studies report sensitivity as a fraction of all patients with cancer, regardless of the molecular status of their tumor. When microsatellites are used as targets, the number of markers in each study varies and is listed in parentheses. The upper limit of detection denotes the upper limit of sensitivity for the assay as a dilution of cancer cells among normal cells. Nipple aspirates and ejaculates are potential but unproven clinical samples for the detection of breast and prostate cancer, respectively. Sensitivity and specificity for detecting cancer are listed as reported in each study.

Cancer typeClinical sampleGenetic markerUpper limit of detectionPatients (n)Controls (n)Sensitivity (%)Specificity (%)Reference
Head and neckSaliva p53 1/10,0007071100 49
Telomerase1/10,00044223295 25
LungSputum ras/p53 1/10,00010580100 17
ras 1,10,000530100100 16
Microsatellites (4)1/5005060100 50
ColonStool ras 1/10,0009688100 13
Telomerase1/10,00015960100 26
PancreasStool ras 1/10,00011366100 15
Juice ras 1/100,00073100100 14
BladderUrine p53 1/10,00033100100 12
Microsatellites (13)1/50020595100 21
Microsatellites (20)1/50021091100 22
Telomerase1/10,00026836296 27