MSH2 and MLH1 polymorphisms in HNPCC families
| Gene/exon or intron | Position of sequence alteration | Consequence | Frequency of heterozygous cases |
|---|---|---|---|
| (A) Frequent polymorphisms | |||
| MSH2/1 | c.211+9c/g | No consequence – polymorphism | 32/101 |
| MSH2/6 | c.965A/G | G322D | 19/101 |
| MSH2/9 | c.1511-9t/a | No consequence – polymorphism | 14/101 |
| MSH2/10 | c.1661+12g/a | No consequence – polymorphism | 33/101 |
| MLH1/8 | c.655A/G | I219V | 31/101 |
| MLH1/13 | c.1558+14a/g | No consequence – polymorphism | 5/101 |
| MLH1/14 | c.1668-19a/g | No consequence – polymorphism | 43/101 |
| (B) Rare polymorphisms-silent mutations | |||
| Family ID | Gene/exon | Position of nucleotide change | |
| PK2801 | MSH2/7 | c.1224T>C | |
| WB8028 | MSH2/10 | c.1563T>C | |
| CE6219 | MLH1/18 | c.2040C>T | |
| LM2328 | MLH1/19 | c.2323T>A | |