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% | |