Table 4 Germline MSH2 and MLH1 mutations in Polish HNPCC families
From: Some aspects of molecular diagnostics in Lynch syndrome
Mut. No. | Gene/exon or intron | Position of nucleotide with mutation | Consequence | Number of families | Reported in other populations |
|---|---|---|---|---|---|
1. | MSH2/1 | c.4 G>A | A2T | 1 | yes |
2. | MSH2/1-6 | unknown | del ex1-6 in DNA1 | 1 | ? |
3. | MSH2 /2 | del/ins 2 | Premature nonsense codon | 1 | no |
4. | MSH2/3-6 | unknown | del ex3-6 in DNA | 1 | ? |
5. | MSH2/3 | c.435T>G | I45M | 1 | yes |
6. | MSH2 /3 | c.613G>T | E205X | 1 | no |
7. | MSH2 /SD3 | c.645 + 1g>t | del ex3 no reading frame shift | 1 | no |
8. | MSH2 /4 | c.715 C>T | Q239X | 1 | no |
9. | MSH2/SD5 | c.942 + 3a>t | del ex5 no reading frame shift | 10 | yes |
10. | MSH2 /7 | c.1204C>T | Q402X | 1 | no |
11. | MSH2 /7 | c.1215C>A | Y405X | 1 | no |
12. | MSH2/7 | c.1216C>T | R406X | 2 | yes |
13. | MSH2/7-16 | unknown | del ex7-16 in DNA3 | 1 | ? |
14. | MSH2/8 | unknown | del ex8 in DNA4 | 1 | ? |
15. | MSH2/9 | unknown | del ex in DNA4 | 2 | ? |
16. | MSH2 /SD10 | c.1661 + 5g>c | del ex10 with reading frame shift | 1 | no |
17. | MSH2 /11 | c.1705-1706delGA | reading frame shift | 1 | no |
18. | MSH2/12 | c.1771-1772insA | reading frame shift | 1 | no |
19. | MSH2/12 | c.1968C>G | R656X | 1 | yes |
20. | MSH2/13 | c.2131C>T | R711X | 1 | yes |
21. | MSH2 /SD13 | c.2210 + 1g>c | del ex13 with reading frame shift | 1 | no |
22. | MSH2 /14 | c.2305delT | reading frame shift | 1 | no |
23. | MSH2 /14 | c.2388delT | reading frame shift | 1 | no |
24. | MSH2 /14 | c.2422G>T | E808X | 2 | no |
25. | MSH2/SD15 | c.2634 + 1g>a | del ex15 with reading frame shift | 1 | yes |
26. | MLH1 /1 | c.37delG | reading frame shift | 1 | no |
27. | MLH1/1 | c.66delG | reading frame shift | 1 | yes |
28. | MLH1/1 | c.83C>T | P28L | 3 | yes |
29. | MLH1 /2 | c.161delG | reading frame shift | 1 | no |
30. | MLH1/2 | c.184C>T | Q62X | 2 | yes |
31. | MLH1/2 | c.199G>A | G67R | 1 | yes |
32. | MLH1 /3 | c.256C>T | Q86X | 1 | no |
33. | MLH1/4 | c.350C>T | T117M | 1 | yes |
34. | MLH1 /4 | c.356-357insAA | reading frame shift | 1 | no |
35. | MLH1 /5 | c.392C>A | S131X | 1 | no |
36. | MLH1/7SA | c.546-2a>g | del ex7 with reading frame shift | 1 | yes |
37. | MLH1/SD8 | c.677G>T | del ex8 with reading frame shift | 3 | yes |
38. | MLH1 /10 | g.37019613-37020677del1064 | del ex10 in DNA 4 | 1 | no |
39. | MLH1 /SD10 | c.883delAGgt | del ex10 with reading frame shift | 1 | no |
40. | MLH1 /SD10 | c.883A>C (c.884-2A>C) | del ex10 with reading frame shift | 1 | no |
41. | MLH1 /12 | c.1252-1253delGA | reading frame shift | 1 | no |
42. | MLH1/12 | c.1321G>A | A441T | 3 | yes |
43. | MLH1/SD12 | c.1409 + 1g>c | del ex12 with reading frame shift | 1 | yes |
44. | MLH1/13 | c.1489-1490insC | reading frame shift | 3 | yes |
45. | MLH1/15 | c.1672G>T | E558X | 1 | yes |
46. | MLH1/15 | c.1731G>A | del ex15 with reading frame shift | 1 | yes |
47. | MLH1/16 | c.1852-1854delAAG | 618delK | 1 | yes |
48. | MLH1 /18 | c.2040C>A | C680X | 1 | no |
49. | MLH1/18 | c.2041G>A | A681T | 8 | yes |
50. | MLH1 /19 | c.2223delGCAGCTTGCTA | reading frame shift | 1 | no |