Table 2
Sensitivity of mutation screening techniques for BRCA1/2
| Proportion of mutations detected | ||
|---|---|---|
| Technique | BRCA1 | BRCA2 |
| A-PTT large exons+2/20 BRCA1. | ||
| 1(a) PTT large exons+2, 20 BRCA1 (A) –Assumes 66% sensitivityfor whole gene approach | 40/78 (51%) | 26/50(52%) |
| 1(b) Add deletion test | 39% for whole gene | ? |
| (MLPA/MAPH) | 33% for whole gene | 33% for whole gene |
| 2(a) A+SSCP ends of large exons. | 52/78 (67%) | 35/50 (70%) |
| Sensitivity for whole gene approach 66% | ||
| 2(b) Add deletion test | 50% for whole gene | ? |
| 44% for whole gene | 46% for whole gene | |
| 3(a) SSCP+PTT for whole gene | 65–73% | 65–85% |
| 3(b) Add deletion test | 71–79% | ? |
| 4(a) Sequencing whole gene or similar very high sensitivity strategy (eg DHPLC) | 85% | 85–90% |
| 4(b) Add deletion test | 91% | |
