Gismondi | 1998 | PCR, sequencing | | | 1 | | | 310 bp, stop codon 1575 | 26 | | Desmoid, osteomas, no CHRPE |
deRosa | 1999 | Quantitative PCR, polymorphic markers | 18 | 9 | 3 (17%) | 33% | | Whole gene | | >100 (CRC 36–42) | Desmoids, osteomas, CHRPE |
| | | | | | | | Whole gene | 28–35 | Hundreds (CRC 30–42) | CHRPE |
| | | | | | | | Whole gene | 29 | Profuse | Osteomas, CHRPE |
Cao | 2000 | cDNA analysis (PTT) | 28 | 8 | 2* (7%) | 25% | | Exon 11 | 15–47 | Multiple->1000 | CHRPE |
| | | | | | | | Exon 14 | 43–50 | | |
Su | 2000 | cDNA analysis | 49 | 22 | 3* (6%) | 14% | | Exon 11–12, exon 14 | | | |
Flintoff | 2001 | Quantitative PCR | 68 | 22 | 4 (6%) | 18% | | At least 8-3’, at least 8–15F, 15A–F | 62 (one patient) | | |
Su | 2002 | cDNA analysis | | | 1 | | | Exon 15 | 21 | Typical (innumerable polyps) | Epidermoid cysts |
| | | | | 1 | | | Exon 15 | 42 | Attenuated (70–90) | |
Sieber | 2002 | Real-time PCR, polymorphic markers | | 203 | 7 | 3.5% | 12% | 6 whole gene | 26.5 (median) | >100 colorectal polyps | 29% |
This study | 2004 | MLPA | | 174 | 26 | 15% | 48% | 14 whole gene, 12 partial deletions | 16–64 | Predominant typical | 23% (desmoids, epidermoid cysts) |