Table A2.
Characteristics of studies that were included in the meta-analysis. Note that the Debniak et al. (2000) study and the Dieumegard et al. (2000) study were each subdivided into a high-risk set and a low-risk set, and thus appeared in Table 1 twice
| Paper | Ethnic | Families | Mutation testing strategy | Notes |
|---|---|---|---|---|
| Bapat et al. (1999) | Mixed | 14 ACa + 19 MCb | RT-PCR + PTT | |
| Calistri et al. (2000) | Italian | 13 AC + 7MGc + 4 fhd | Exon-by-exon SSCP | |
| Cederquist et al. (2001) | Swedish | Double primary tumor at colorectum or endometrium | DHPLC confirmed by sequencing | MSH6 results excluded |
| Debniak et al. (2000) | Polish | 11 def.hnpcce (or highly likely) + 15 sporadic late-onset CRC | Sequencing | IHC results discarded |
| Dietmaier et al. (1997) | German | 148 sporadic CRC | None | |
| Dieumegard et al. (2000) | French | 15 ICGf + 1 fh + 7 sporadic < 50 | SSCP | IHC results discarded |
| Lamberti et al. (1999) | German | 47 AC + 5 looser AC | PCR + SSCA + HA, etc. | Some data excluded b/c of poor presentation |
| Liu et al. (2000) | Swedish | ‘Highly suspicious for HNPCC’ | DGGE + RT-PCR + PTT | Some AC, some fh, some early CRC, no break-down given |
| Loukola et al. (1999) | Finnish | CRC registry | DGGE or Sequencing on MSI+ | |
| Percesepe et al. (2001) | Italian | CRC registry | None | |
| Ponz de Leon et al. (2004) | Italian | ‘Consistent with HNPCC’ | SSCP or Sequencing | MSI results n.a. |
| Salahshor et al. (1999) | Swedish | Sporadic CRC | None | |
| Salovaara et al. (2000) | Finnish | Sporadic CRC | Search for 2 founder mutation with ASO and PCR-based, then sequencing the negatives | |
| Scartozzi et al. (2002) | Italian | At least one of the BGg | Sequencing | |
| Terdiman et al. (2001) | US | 23% met AC, 70% BG | DGGE | |
| Wahlberg et al. (2002) | US | 38 AC or BG + 5 MG + 5 HNPCC-like | Sequencing | |
| Wang et al. (2003) | German | BG | SSCP, HA, DHPLC followed by sequencing | Semiquantitative multiplex PCR result excluded |
CRC = colorectal cancer; SSCP = single-strand conformation polymorphism; DHPLC = denaturing high-performance liquid chromatography; ASO = allele-specific oligonucleotide.
a
Amsterdam criteria.
b
Mt. Sinai Hospital criteria.
c
Modified guidelines.
d
Positive family history.
e
Definitive HNPCC.
f
International Collaborative Group criteria.
g
Bethesda guidelines.