Results of microsatellite analysis and immunohistochemistry for patients with truncating mutations in MLH1 or MSH2
| Pedigree | Exon | Codon/ amino acid change | Nucleotide change | Consequence | Criteria | MSI quotient* | MLH1 EXP | MSH2 EXP | MSH6 EXP | Reference |
|---|---|---|---|---|---|---|---|---|---|---|
| *MSI quotient, number of unstable microsatellite markers to the number of markers tested. | ||||||||||
| †Bethesda positive; ‡Amsterdam I positive; §Amsterdam II positive; ¶Muir Torre. ND, not determined. | ||||||||||
| EXP, expression of protein in immunohistochemical staining of tumour tissue. | ||||||||||
| 1 | H1 3 | R100X | c.298 C>T | Nonsense | B† | 4/5 | + | + | ND | Samowitz17 |
| 2 | H1 9 | c.790+1G>A | Splice defect | A I‡ | 4/5 | − | + | + | Cunningham18 | |
| 3 | H1 9 | c.790+1del G | Splice defect | A I | 5/5 | + | + | Novel | ||
| 4 | H1 9 | c.790+1delG | Splice defect | A I | 6/7 | − | + | + | Novel | |
| 5 | H1 10 | 295 | c.884+2T>C | Splice defect | A II§ | 5/5 | ND | ND | ND | Novel |
| 6 | H1 13 | 488 | c.1463delA | Frameshift | A I | 4/5 | − | + | + | Novel |
| 7 | H1 13 | 497 | c.1490insC | Frameshift | B | 4/7 | − | + | ND | Möslein 19 |
| 8 | H1 13 | 497 | c.1490insC | Frameshift | A II | 5/8 | − | + | + | Möslein 19 |
| 9 | H1 13 | 497 | c.1490insC | Frameshift | A II | 5/5 | − | − | ND | Möslein 19 |
| 10 | H1 13 | 497 | c.1490insC | Frameshift | B | 5/7 | − | + | ND | Möslein 19 |
| 11 | H1 15 | Y561X | c.1683C>G | Nonsense | B | 5/5 | − | + | + | Novel |
| 12 | H1 16 | c.1732-1G>A | Splice defect | A I | 4/5 | − | + | + | Novel | |
| 13 | H2 4 | 239 | c.717_721delGGACCinsTTA | Frameshift | B | 7/7 | + | − | − | Novel |
| 14 | H2 6 | c.1076+1G>A | Splice defect | B | 0/0 | ND | ND | ND | Novel | |
| 15 | H2 7 | R383X | c.1147C>T | Nonsense | B | 0/0 | ND | ND | ND | Buerstedde20 |
| 16 | H2 7 | 408 | c.1222insT | Frameshift | A I | 6/7 | + | − | ND | Novel |
| 17 | H2 7 | c.1226delAG | Frameshift | A II | 3/5 | ND | ND | ND | Möslein,19 Liu21 | |
| 18 | H2 7 | c.1226delAG | Frameshift | B | 5/5 | + | − | − | Möslein,19 Liu21 | |
| 19 | H2 7 | c.1077- 2A>G | Splice defect | B | 8/8 | + | − | − | Novel | |
| 20 | H2 8 | c.1386+1G>A | Splice defect | MT¶ | 5/7 | + | − | ND | Novel | |
| 21 | H2 8 | Q429X | c.1285C>T | Nonsense | A I | 5/5 | + | − | ND | Wijnen 22 |
| 22 | H2 9 | 469 | c.1408delG | Frameshift | B | 8/8 | + | − | ND | Novel |
| 23 | H2 9 | c.1497delA | Frameshift | AI | 5/5 | + | − | ND | Novel | |
| 24 | H2 11 | c.1720delC | Frameshift | B/MT | 4/5 | + | − | ND | Novel | |
| 25 | H2 12 | c.2005 + 2T>C | Splice defect | A I | 5/5 | + | − | ND | Novel | |