Table 2.
Summary of studies that have tested DNA integrity and genetic alteration markers in stool samples
| Study | Biomarker(s) | Methods | Assay for Long DNA | Case analyzed | Sensitivity | Specificity |
| Ahlquist et al[88], 2000 | Stool DNA integrity | L-DNA (4 sites) | Hybrid | CRC: 22 | 91% | 93% |
| KRAS, TP53, APC | Mutation analysis | Capture | A ≥ 1 cm: 11 | 82% | NA | |
| BAT 26 | MSI | PCR | HD: 28 | |||
| Tagore et al[89], 2003 | Stool DNA integrity | L-DNA (6 sites) | Hybrid | CRC: 52 | 64% | 96% |
| KRAS, TP53, APC | Mutation analysis | Capture | AA: 28 | |||
| BAT 26 | MSI | PCR | HD: 212 | 57% | NA | |
| Calistri et al[90], 2003 | Stool DNA integrity | L-DNA (8 sites) | PCR | CRC: 56 | 62% | 97% |
| KRAS, TP53, APC | Mutation analysis | HD: 38 | ||||
| D2S123, D5S346, D17S250 | ||||||
| BAT 25, BAT 26 | MSI | |||||
| Boyton et al[91], 2003 | Stool DNA integrity | L-DNA (6 sites) | Hybrid | CRC: 27 | 56% | 97% |
| Capture | HD: 77 | |||||
| PCR | ||||||
| Calistri et al[92], 2004 | Stool DNA integrity | FL-DNA (8 sites) | Capillary | CRC: 85 | 76% | 93% |
| Electrophoresis | HD: 59 | |||||
| Whitney et al[93], 2004 | Stool DNA integrity | L-DNA (4 sites) | Magnetic | CRC: 86 | 70% | 96% |
| KRAS, TP53, APC | Mutation analysis | Bead-Based | HD: 100 | |||
| BAT 26 | MSI | Sequence-Specific Purification | ||||
| Capture | ||||||
| Imperiale et al[94], 2004 | Stool DNA integrity | L-DNA (4 sites) | Hybrid Capture | CRC: 31 | 52% | 95% |
| KRAS, TP53, APC | Mutation analysis | PCR | AA: 407 | 15% | NA | |
| BAT 26 | MSI | P: 648 | 8% | NA | ||
| HD: 1423 | ||||||
| Kutzner et al[95], 2005 | Stool DNA integrity | L-DNA (4 sites) | Hybrid | CRC: 57 | 65% | 91% |
| APC | Mutation analysis | Capture | HD: 44 | |||
| BAT 26 | MSI | PCR | ||||
| Zou et al[96], 2006 | Stool DNA integrity | L-DNA: Alu-assay (2 sites) | RT PCR | CRC: 18 | 44% | 100% |
| HD: 20 | ||||||
| Itzkowitz et al[97], 2007 | Stool DNA integrity | L-DNA (4 sites Locus D, Locus Y) | RT PCR | CRC: 40 | 88% | 82% |
| Vimentin | Methylation analysis | HD: 122 | ||||
| Abbaszadegan et al[98], 2007 | Stool DNA integrity | L-DNA: (1476 bp fragments) | PCR | CRC: 25 | 64% | 95% |
| p16 | Methylation analysis | HD: 20 | ||||
| BAT 26 | MSI | |||||
| Ahlquist et al[99], 2008 | Stool DNA integrity | L-DNA (4 sites) | PCR | CRC: 12 | 25% | 96% |
| KRAS, APC, TP53 | Mutations Analysis | A ≥ 1 cm: 135 | 17% | NA | ||
| BAT 26 | MSI | A < 1 cm: 469 | ||||
| Stool DNA test 1 | P: 341 | 4% | NA | |||
| HD: 1473 | 5% | NA | ||||
| Itzkowitz et al[47], 2008 | Stool DNA integrity | L-DNA ( 4 sites, Locus D, Locus Y) | RT PCR | CRC: 82 | 83% | 82% |
| Vimentin | Methylation Analysis | HD: 363 | ||||
| Calistri et al[100], 2009 | Stool DNA integrity | FL-DNA (8 sites) | Capillary | CRC: 100 | 79% | 89% |
| Electrophoresis | HD: 100 | |||||
| Calistri et al[101], 2010 | Stool DNA integrity | FL-DNA (8 sites) | Capillary | CRC: 26 | Cancer risk prediction with markers combination | |
| iFOBT | iFOBT | Electrophoresis | A HR: 264 | |||
| A LR: 54 | ||||||
| HD: 216 | ||||||
| Kalimutho et al[102], 2011 | Stool DNA integrity | L-DNA (4 sites) | QdHPLC | CRC: 28 | 86% | 81% |
| Calprotectin | ELISA | A: 69 | 17% | NA | ||
| HD: 95 | 72% | 75% | ||||
| Ahlquist et al[103], 2012 | Stool DNA integrity | L-DNA | QuARTS | CRC: 252 | 85% | 89% |
| KRAS | Mutations Analysis | A ≥ 1 cm: 133 | 63% | NA | ||
| NDRG4, BMP3, vimentin, | Methylation Analysis | A < 1 cm: 94 | 54% | NA | ||
| TFP12/α-actine | HD: 293 | |||||
L-DNA: Long-DNA; FL-DNA: Fluorescence long DNA; CRC: Colorectal cancer; A: Adenoma; AA: Advanced Adenoma; A HR: Adenoma high risk; A LR: Adenoma low risk; HD: Healthy donors; HP: Hyperplasic polyps; NA: Not available; RT-PCR: Real time polymerase chain reaction; QdHPLC: Quantitative denaturing high performance liquid chromatografy; QuARTS: Quantitative allele specific real-time target and signal amplification; MSI: Microsatellite instability.