Table I.
Analysis of association between germline/somatic mutation sites and the remaining number of 20 amino acid repeats in reported cases.
Germline mutation | Somatic mutation | |||||
---|---|---|---|---|---|---|
Patient no. | Cancerous lesion no. | Mutation type | Remaining numbers of 20-AARs | Mutation type | Remaining numbers of 20-AARs | First author, year (ref.) |
1 | 1 | Codon 917 T deletion | 0 | Codon 728 AAT-AT; A deletion | 0 | Present study |
2 | 2 | Codon 1179–11817 bp deletion | 0 | Codon 607 T deletion | 0 | |
3 | 3 | Codon 1483 C deletion | 2 | Codon 295 G deletion | 0 | |
4 | 4 | Codon 554 CGA→TGA | 0 | Codon 308 deletion C | 0 | Uchino et al, 2006 (14) |
5 | Codon 534 1602 deletion A | 0 | ||||
6 | Codon 607 1821 deletion T | 0 | ||||
7 | Codon 640 1920 deletion G | 0 | ||||
8 | Codon 902 2706 deletion 20 | 0 | ||||
9 | Codon 935 2804 insertion A | 0 | ||||
5 | 10 | Codon 175 C deletion | 0 | Codon 886, CAG→TAG | 0 | Miyaki et al, 2000 (13) |
11 | LOH | 0 | ||||
12 | Codon 1536 GAA→TAA | 3 | ||||
13 | LOH | 0 | ||||
14 | Codon 1554–1556 A insertion | 3 | ||||
6 | 15 | Codon 1110 TCA→TGA | 0 | Codon 857 GGA→TGA | 0 | |
16 | Codon 1060–1063 AAAAC deletion | 0 |
20-AARs, 20-amino acid repeats; LOH, loss of heterozygosity.