Table 1.
Variants identified in the MSH6 gene in our study.
| Exon | Nucleotide Change | Amino Acid Change | Frequency in Hereditary CRC | Reference (Reportage) | Other Studies | ||
|---|---|---|---|---|---|---|---|
| Segregation Analysis | MSI | IHC | |||||
| 1 | c.116 G>A | p.Gly39Glu | 42 families | dbSNP-rs1042821 | ND | ND | ND |
| 1 | c.186 A>C | p. = (Arg) | 40 families | Nicolaides et al. 1996 (29 times) | ND | ND | ND |
| 1 | c.260 +22 C>G | 29 families | Kolodner et al. 1999 (8 times) | ND | ND | ND | |
| 2 | c.261 −46 A>G | 1 family | this study | ND | ND | ND | |
| 2 | c.276 A>G | p. = (Pro) | 20 families | dbSNP-rs1800932 | ND | ND | ND |
| 2 | c.431 G>T | p.Ser144Ile | 1 family | Wu et al. 1999 (26 times) | ND | MSI-H | ND |
| 2 | c.457 +33_+34insGTGT | 1 family | Identified in this study | (+) | MSI-L | ND | |
| 2 | c.457 +50 T>A | 1 family | Identified in this study | ND | MSI-H | ND | |
| 2 | c.457 +52 T>A | 3 families | Plaschke et al. 2000 (25 times) | ND | ND; ND; MSI-H | ND | |
| 3 | c.540 T>C | p. = (Asp) | 11 families | dbSNP-rs1800935 | ND | ND | ND |
| 4 | c.642 C>T | p. = (Tyr) | 6 families | Wijnen et al. 1999 (26 times) | ND | ND | ND |
| 4 | c.663 A>C | p.Glu221Asp | 1 family | Devlin et al. 2008 (7 times) | ND | ND | ND |
| 4 | c.990 A>T | p. = (Ser) | 1 family | Identified in this study | ND | MSI-H | ND |
| 4 | c.1164 C>T | p. = (His) | 1 family | Kolodner et al. 1999 (4 times) | (−) | MSI-H | ND |
| 4 | c.1395 A>T | p. = (Ala) | 1 family | Identified in this study | (−) | MSI-H | ND |
| 4 | c.2049_2050insAGT | p.Ala683_Leu684insSer | 1 family | Identified in this study | (+) | MSI-H | MSH6-; MSH2+; MLH1+ |
| 4 | c.2398 G>C | p.Val800Leu | 1 family | Kolodner et al. 1999 (3 times) | (+) | MSI-H | ND |
| 4 | c.2633 T>C | p.Val878Ala | 2 families | dbSNP-rs2020912 | ND | MSI-H, ND | ND |
| 4 | c.2941 A>G | p.Ile981Val | 1 family | Identified in this study | (+) | MSI-H | ND |
| 5 | c.3226 C>T | p.Arg1076Cys | 1 family | Plaschke et al. 2000 (8 times) | ND | MSI-H | ND |
| 5 | c.3261dup | p.Phe1088Argfs*3 | 1 family | Bonk et al. (2 times) | (−) | MSI-L | MSH6-; MSH2+; MLH1+ |
| 5 | c.3296_3297delTT | p.Ile1099delinsAsnfs*8 | 1 family | Identified in this study | (−) | MSI-H | ND |
| 5 | c.3438 +14 A>T | 15 families | dbSNP-rs2020911 | ND | ND | ND | |
| 7 | c.3639 T>A | p.Asp1214Glu | 1 family | Identified in this study | ND | ND | ND |
| 7 | c.3646 +31_+34del | 16 families | dbSNP-rs1805181 | ND | ND | ND | |
| 8_9 | c.3802−42insT | 4 families | Plaschke et al. 2000 (2 times) | ND | ND; ND; ND; ND | ND | |
| 8_9 | c.3801 +54C>G | 8 families | Kolodner et al. 1999 (10 times) | ND | ND | ND | |
NCBI accession number: NM000179; CRC: colorectal cancer; ND: not done; MSI-L/H: low/high microsatellite instability; IHC: immunohistochemistry.