Comparison of methods for detecting mutations in BRCA12-150
| Mutation type (number in set)2-150 | Abnormal migration (%) | Confirmation of mutation in abnormally migrating fragment (%) | Total mutations reported correctly (%) |
| (A) SSCP | |||
| Frameshift (20) | 19/20 (95) | 17/18 (94) | 16/19 (84) |
| Base substitutions | |||
| Nonsense (18) | 7/18 (39) | 7/7 (100) | 7/18 (39) |
| Missense (15) | 12/15 (80) | 7/7 (100) | 7/10 (70) |
| Splice (5) | 4/5 (80) | 3/3 (100) | 3/4 (75) |
| Total | 42/58 (72) | 34/35 (97) | 33/51 (65) |
| (B) CSGE | |||
| Frameshift (20) | 14/15 (93) | 11/14 (79) | 10/15 (67) |
| Base substitutions | |||
| Nonsense (18) | 8/12 (67) | 8/8 (100) | 6/12 (50) |
| Missense (15) | 10/15 (67) | 9/10 (90) | 9/15 (60) |
| Splice (5) | 2/3 (67) | 2/2 (100) | 2/3 (67) |
| Total | 34/45 (76) | 30/34 (88) | 27/45 (60) |
| (C) TDGS | |||
| Frameshift (20) | 18/20 (90) | 18/18 (100) | 18/20 (90) |
| Base substitutions | |||
| Nonsense (18) | 17/18 (94) | 16/16 (100) | 16/17 (94) |
| Missense (15) | 14/15 (93) | 14/14 (100) | 14/15 (93) |
| Splice (5) | 4/5 (80) | 3/3 (100) | 3/4 (75) |
| Total | 53/58 (91) | 51/51 (100) | 51/56 (91) |
| (D) DHPLC | |||
| Frameshift (20) | 20/20 (100) | 20/20 (100) | 20/20 (100) |
| Base substitutions | |||
| Nonsense (18) | 18/18 (100) | 18/18 (100) | 18/18 (100) |
| Missense (15) | 15/15 (100) | 15/15 (100) | 15/15 (100) |
| Splice (5) | 5/5 (100) | 5/5 (100) | 5/5 (100) |
| Total | 58/58 (100) | 58/58 (100) | 58/58 (100) |
↵2-150 Discrepant values between the number of samples in the set and the number of samples analysed (denominator) reflect samples for which either PCR amplification failed or for which there was insufficient DNA for sequence analysis following initial screening.