Clinical Characteristics of Patients With Defective MSH2 Protein Expression
| Name . | Diagnosis . | Sex/Age . | Cytogenetics . | p53 Status . |
|---|---|---|---|---|
| 1. AH | M2 | M/65 | 46 XY, t(8;21)(q22;q22) | Wild-type |
| 2. AS | M4 | F/58 | 45 XX, −3, −12, −17, −18, −19, −22, 5q−, 7q−, +t(17q;?), +t(19;?), +i(11q), +2mar | Mutant p53 at codon 248 cgg → tgg (Arg → Trp) |
| 3. BG | M2 | F/69 | 46 XX | Wild-type |
| 4. EH | M6 | M/68 | 41-47 XY, −5, +6, der(7)t(7;?), −8, +8, +9, −13, −14, −14, +t(14;14)(p1;q1), −15, add(16)(q2), −17, −18, −22, −22, +r(?), +mar1, +mar2, +mar3x2(cp10) | Mutant p53 at codon 175 cgc → ggc (Arg → Gly) |
| 5. EW | t-ALL (L3) | M/52 | 46 XY, −4, t(8;14)(q24;q32), −13, −14, +mar1, +mar2, +mar3 | Mutant p53 at codon 249 agg → tgg (Arg → Trp) |
| 6. KP | M2 | M/35 | 42 XY, −5, −7, −8, −13, −13, −14, −15, −17, −18, −19, −21, +der5, +der7, 11p+, 14p+, 18q+, 19q+, i(21q), +mar1, +mar2, +mar3, +r | Wild-type |
| 7. JG | M4 | F/64 | 45 XX, −5, −16, −21, −y(?), +14q, −22q | Mutant p53 at codon 273 cgt → cat (Arg → His) |
| 8. MJ | t-AML (M4) | F/70 | 46, XX | Wild-type |
| 9. MP | CML → AML | M/43 | 46, XY, t(9;22)(q34;q11) | Wild-type |
| 10. MRT | M1 | M/60 | Not available | Wild-type |
| 11. MT | M4 | M/17 | 47 XY, +8 | Wild-type |
| 12. NS | M5 | F/80 | 45-49 X, −X, dup(1)(q10q3), del(1)(q?2), del(2)(q?3), +del(2)(q?3), add(6)(p2), add(12)(q24), −13, −16, +?del(19)(?q1), −20, +3mar(op8) | Mutant p53 at codon 175 cgc → cac (Arg → His) |
| 13. RG | M4 | M/71 | 46 XY | Wild-type |
| 14. SG | M5 | M/77 | 46 XY, inv(6)(p11q23)/8p+ | Wild-type |
| Name . | Diagnosis . | Sex/Age . | Cytogenetics . | p53 Status . |
|---|---|---|---|---|
| 1. AH | M2 | M/65 | 46 XY, t(8;21)(q22;q22) | Wild-type |
| 2. AS | M4 | F/58 | 45 XX, −3, −12, −17, −18, −19, −22, 5q−, 7q−, +t(17q;?), +t(19;?), +i(11q), +2mar | Mutant p53 at codon 248 cgg → tgg (Arg → Trp) |
| 3. BG | M2 | F/69 | 46 XX | Wild-type |
| 4. EH | M6 | M/68 | 41-47 XY, −5, +6, der(7)t(7;?), −8, +8, +9, −13, −14, −14, +t(14;14)(p1;q1), −15, add(16)(q2), −17, −18, −22, −22, +r(?), +mar1, +mar2, +mar3x2(cp10) | Mutant p53 at codon 175 cgc → ggc (Arg → Gly) |
| 5. EW | t-ALL (L3) | M/52 | 46 XY, −4, t(8;14)(q24;q32), −13, −14, +mar1, +mar2, +mar3 | Mutant p53 at codon 249 agg → tgg (Arg → Trp) |
| 6. KP | M2 | M/35 | 42 XY, −5, −7, −8, −13, −13, −14, −15, −17, −18, −19, −21, +der5, +der7, 11p+, 14p+, 18q+, 19q+, i(21q), +mar1, +mar2, +mar3, +r | Wild-type |
| 7. JG | M4 | F/64 | 45 XX, −5, −16, −21, −y(?), +14q, −22q | Mutant p53 at codon 273 cgt → cat (Arg → His) |
| 8. MJ | t-AML (M4) | F/70 | 46, XX | Wild-type |
| 9. MP | CML → AML | M/43 | 46, XY, t(9;22)(q34;q11) | Wild-type |
| 10. MRT | M1 | M/60 | Not available | Wild-type |
| 11. MT | M4 | M/17 | 47 XY, +8 | Wild-type |
| 12. NS | M5 | F/80 | 45-49 X, −X, dup(1)(q10q3), del(1)(q?2), del(2)(q?3), +del(2)(q?3), add(6)(p2), add(12)(q24), −13, −16, +?del(19)(?q1), −20, +3mar(op8) | Mutant p53 at codon 175 cgc → cac (Arg → His) |
| 13. RG | M4 | M/71 | 46 XY | Wild-type |
| 14. SG | M5 | M/77 | 46 XY, inv(6)(p11q23)/8p+ | Wild-type |